Infantile Epilepsy Subpanel (58)

 

Related Genes: ABAT, ADSL, ALG13, AMT, ARHGEF9, ARX, CDKL5, CHD2, DNM1, DOCK7, DYRK1A, EEF1A2, GABRA1, GABRB2, GCSH, GLDC, GNAO1, GNB1, GPHN, GRIN2B, HCN1, HIP1, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, LIAS, MAGI2, MAPK10, MECP2, MTHFR, NECAP1, PCDH19, PIGA, PIGO, PLCB1, PNKP, PNPO, RARS2, RNASEH2A, ROGDI, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22, SLC35A2, SLC6A8, SPTAN1, ST3GAL3, STX1B, STXBP1, SZT2, TBC1D24, WWOX

Epilepsy is a neurological condition that is characterized by recurrent, unprovoked seizures that affects approximately 1.2% of the population in the US. While epilepsy can develop due to a physical insult to the brain, there are also many genetic forms of epilepsy. It is a spectrum condition with a wide range of seizure types and age of onset, varying from person-to-person. Individuals with epilepsy may also develop other neurological problems as a result of recurrent seizures.

Infantile epilepsy includes inherited forms of epilepsy with onset of seizures in the first year of life. Examples of these disorders include early infantile epileptic encephalopathy (EIEE) disorders, West syndrome, Lennox-Gastaut syndrome, a variety of ion channel disorders, neurotransmitter disorders, and neurometabolic disorders. Affected infants typically have tonic, myoclonic, or focal seizures and may show developmental delay, autism, cognitive impairment, and movement disorders.

The Infantile Epilepsy Subpanel includes 58 genes that are associated with both syndromic and non-syndromic genetic causes of infantile-onset epilepsy. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: Infantile Epilepsy Subpanel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

A high-resolution chromosomal microarray (HRP) is available as an additional test, which is to identify DNA copy number variants (CNVs) associated with chromosome imbalances including gains and losses throughout the genome, as well as absence of heterozygosity (AOH) that can be indicative of uniparental disomy (UPD) or regions of the genome identical by descent (IBD).

Targeted Testing: Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Focal, Generalized, and Myoclonic Epilepsy Subpanel (52)

 

Related Genes:

ACY1, ADGRV1, ALDH5A1, ALDH7A1, BCKDK, CACNA1H, CACNA2D2, CACNB4, CASR, CCM2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CNTNAP2, CPA6, CSTB, DEPDC5, EFHC1, EPM2A, FOLR1, GABRB3, GABRD, GABRG2, GNB1, GOSR2, GRIN2A, HTRA1, KCNJ11, KCNMA1, KCNQ3, KCTD7, KRIT1, NDE1, NDUFA1, NHLRC1, NPRL2, NPRL3, PDCD10, PRICKLE1, PRICKLE2, PTEN, RARS2, SCARB2, SCN1B, SCN3A, SCN9A, SERPINI1, SLC6A1, SNAP25, TRPM6

Epilepsy is a neurological condition that is characterized by recurrent, unprovoked seizures that affects approximately 1.2% of the population in the US. While epilepsy can develop due to a physical insult to the brain, there are also many genetic forms of epilepsy. It is a spectrum condition with a wide range of seizure types and age of onset, varying from person-to-person. Individuals with epilepsy may also develop other neurological problems as a result of recurrent seizures. Focal epileptic seizures originate within a single hemisphere of the brain. These may be discretely localized or more widely distributed within the hemisphere. There are two categories: “simple partial seizures,” which do not result in an alteration of consciousness, and “complex partial seizures,” which cause a change in behavior or consciousness. Generalized epileptic seizures originate at some point within the brain and rapidly engage both cerebral hemispheres. They can include cortical and subcortical structures but do not necessarily include the entire cortex. Tonic-clonic (also known as grand mal), absence (also known as petit mal), myoclonic, clonic, tonic, and atonic seizures are all types of generalized seizures.

The Focal, Generalized, and Myoclonic Epilepsy Subpanel includes 52 genes that are associated with both syndromic and non-syndromic genetic causes of these sub-types of epilepsy. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Focal, Generalized, and Myoclonic Epilepsy Sub-panel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

A high-resolution chromosomal microarray (HRP) is available as an additional test, which is to identify DNA copy number variants (CNVs) associated with chromosome imbalances including gains and losses throughout the genome, as well as absence of heterozygosity (AOH) that can be indicative of uniparental disomy (UPD) or regions of the genome identical by descent (IBD).

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Comprehensive Epilepsy Panel (226)

 

Related Genes:

ABAT, ACY1, ADGRG1, ADGRV1, ADSL, ALDH5A1, ALDH7A1, ALG13, AMT, AP1S2, ARFGEF2, ARHGEF9, ARX, ASPM, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATR, ATRX, BCKDK, CACNA1A, CACNA1H, CACNA2D2, CACNB4, CASK, CASR, CCDC88C, CCM2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL18A1, COL4A1, CPA6, CREBBP, CSTB, CTSD, CUL4B, DCX, DEPDC5, DNAJC5, DNM1, DOCK7, DYRK1A, EEF1A2, EFHC1, EHMT1, EMX2, EPM2A, FGD1, FGFR3, FKRP, FLNA, FLVCR2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GCSH, GLDC, GLI2, GNAO1, GNB1, GOSR2, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HCN4, HIP1, HNRNPU, HSD17B10, HTRA1, IQSEC2, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIF1BP, KMT2D, KRIT1, LARGE1, LBR, LGI1, LIAS, MAGI2, MAPK10, MBD5, MCPH1, MECP2, MEF2C, MFSD8, MTHFR, MTOR, NDE1, NDUFA1, NECAP1, NHLRC1, NIPBL, NOTCH3, NPRL2, NPRL3, NRXN1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PCDH19, PDCD10, PHF6, PIGA, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRRT2, PTEN, RAB39B, RAI1, RARS2, RELN, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SERPINI1, SETBP1, SHANK3, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC4A10, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNAP25, SNAP29, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYP, SZT2, TBC1D24, TBX1, TCF4, TPP1, TREX1, TRPM6, TSC1, TSC2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, UBE3A, VANGL1, VPS13A, VPS13B, WDR62, WWOX, ZEB2

Epilepsy is a neurological condition that is characterized by recurrent, unprovoked seizures that affects approximately 1.2% of the population in the US. While epilepsy can develop due to a physical insult to the brain, there are also many genetic forms of epilepsy. It is a spectrum condition with a wide range of seizure types and age of onset, varying from person-to-person. Individuals with epilepsy may also develop other neurological problems as a result of recurrent seizures. It is estimated that up to 10% of individuals with epilepsy also have ASD, with a higher prevalence in males and in syndromic cases.

The Comprehensive Epilepsy Panel includes 226 genes that are associated with both syndromic and non-syndromic genetic causes of epilepsy. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked (XL) manner. Some of the genes in this panel are not fully penetrant, meaning that an individual may have a genetic with a pathogenic variant but not display any of the signs/symptoms of the disorder. Additionally, these disorders may have variable expressivity indicating that individuals carrying the same pathogenic variant may display differing cellular and clinical features and/or differing severity.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Comprehensive Epilepsy panel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. For Fragile X, PCR is performed along with capillary electrophoresis for allele sizing. Samples positive for FMR1 CGG repeats in the premutation and full mutation size range have additional analysis via Southern blot to assess the size and methylation status. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

A high-resolution chromosomal microarray (HRP) is available as an additional test, which is to identify DNA copy number variants (CNVs) associated with chromosome imbalances including gains and losses throughout the genome, as well as absence of heterozygosity (AOH) that can be indicative of uniparental disomy (UPD) or regions of the genome identical by descent (IBD).

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Comprehensive Epilepsy and Autism Panel (401)

 

Related Genes: ABAT, ABCD1, ACSL4, ACY1, ADGRG1, ADGRV1, ADNP, ADSL, AFF2, AGO1, AHI1, AIFM1, ALDH5A1, ALDH7A1, ALG13, AMT, ANK3, ANKRD11, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARHGEF9, ARID1A, ARID1B, ARX, ASPM, ATP13A2, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, BCKDK, BCL11A, BCOR, BRAF, BRWD3, C12ORF57, CA8, CACNA1A, CACNA1C, CACNA1H, CACNA2D2, CACNB4, CASK, CASR, CBL, CC2D1A, CCDC22, CCDC88C, CCM2, CDKL5, CDKN1C, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL18A1, COL4A1, CPA6, CREBBP, CSTB, CTCF, CTNNB1, CTSD, CUL3, CUL4B, CYP27A1, D2HGDH, DCX, DDHD2, DDX3X, DEAF1, DEPDC5, DHCR7, DIS3L2, DKC1, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK7, DPYD, DYNC1H1, DYRK1A, EBP, EEF1A2, EFHC1, EHMT1, EIF2S3, ELP4, EMX2, EPM2A, EZH2, FGD1, FGFR3, FKRP, FLNA, FLVCR2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATAD2B, GATM, GCSH, GDI1, GK, GLDC, GLI2, GLI3, GNAO1, GNB1, GNS, GOSR2, GPC3, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, HCCS, HCN1, HCN4, HDAC8, HGSNAT, HIP1, HNRNPU, HPRT1, HRAS, HSD17B10, HTRA1, HUWE1, IDS, IL1RAPL1, IQSEC2, ITPA, KANSL1, KAT6A, KAT6B, KCNA1, KCNA2, KCNB1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD13, KCTD7, KDM5C, KDM6A, KIF1A, KIF1BP, KIRREL3, KMT2A, KMT2D, KRAS, KRIT1, L1CAM, L2HGDH, LAMC3, LAMP2, LARGE1, LAS1L, LBR, LGI1, LIAS, LINS1, LRP2, MAGEL2, MAGI2, MAN1B1, MAOA, MAP2K1, MAP2K2, MAPK10, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MID1, MTHFR, MTOR, MYT1L, NAA10, NAGLU, NDE1, NDP, NDUFA1, NECAP1, NEXMIF, NF1, NFIX, NHLRC1, NHS, NIPBL, NLGN4X, NOTCH3, NPRL2, NPRL3, NRAS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAFAH1B1, PAK3, PANK2, PAX6, PCDH19, PDCD10, PDHA1, PGK1, PHF6, PHF8, PIGA, PIGN, PIGO, PIGV, PLA2G6, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRPS1, PRRT2, PTCH1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAF1, RAI1, RARS2, RBM10, RELN, RIT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPL10, RPS6KA3, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SERPINI1, SETBP1, SETD2, SETD5, SGSH, SHANK2, SHANK3, SHOC2, SIK1, SLC12A5, SLC13A5, SLC16A2, SLC19A3, SLC1A2, SLC25A1, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC4A10, SLC6A1, SLC6A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMS, SNAP25, SNAP29, SOS1, SOX11, SOX5, SPRED1, SPTAN1, ST3GAL3, ST3GAL5, STX1B, STXBP1, SYN1, SYNGAP1, SYP, SZT2, TAF1, TBC1D24, TBL1XR1, TBR1, TBX1, TCF12, TCF20, TCF4, THOC2, TIMM8A, TMEM231, TMLHE, TPP1, TRAPPC9, TREX1, TRIO, TRPM6, TSC1, TSC2, TSPAN7, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUSC3, UBE2A, UBE3A, UNC80, UPF3B, USP9X, VANGL1, VPS13A, VPS13B, WAC, WDR45, WDR62, WDR81, WWOX, YWHAE, ZC4H2, ZDHHC9, ZEB2, ZMYND11, ZNF407, ZNF711

Autism spectrum disorders are a group of complex disorders of brain development characterized by difficulties in social interaction, verbal and nonverbal communication, and a restricted set of activities and/or interests. By most recent estimates, ASD effects approximately 1 in 59 children and is four times more likely to be diagnosed in boys than girls. Signs begin early in childhood, with developmental delays in social interaction and language present before 3 years of age, and the associated challenges last throughout a person’s life. In some cases, autism is part of a more complex genetic syndrome with other characteristics, although it can also be isolated.

Epilepsy is a neurological condition that is characterized by recurrent, unprovoked seizures that affects approximately 1.2% of the population in the US. While epilepsy can develop due to a physical insult to the brain, there are also many genetic forms of epilepsy. It is a spectrum condition with a wide range of seizure types and age of onset, varying from person-to-person. Individuals with epilepsy may also develop other neurological problems as a result of recurrent seizures. It is estimated that up to 10% of individuals with epilepsy also have ASD, with a higher prevalence in males and in syndromic cases.

The Comprehensive Epilepsy and Autism Panel includes 401 genes, encompassing all genes in the following subpanels: Comprehensive Autism Spectrum Disorder Panel (228 genes) and the Comprehensive Epilepsy Panel (226 genes). The included genes are associated with syndromic and non-syndromic causes of autism spectrum disorders (ASD), intellectual disability, and epilepsy. Given the clinical overlap between these disorders, comprehensive testing allows time- and cost-effective evaluations of multiple conditions. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Some of the genes in this panel are not fully penetrant, meaning that an individual may have a genetic with a pathogenic variant but not display any of the signs/symptoms of the disorder. Additionally, these disorders may have variable expressivity indicating that individuals carrying the same pathogenic variant may display differing cellular and clinical features and/or differing severity.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Comprehensive Epilepsy and Autism Panel and subpanels offered by Sema4 primarily utilize next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. For Fragile X, PCR is performed along with capillary electrophoresis for allele sizing. Samples positive for FMR1 CGG repeats in the premutation and full mutation size range have additional analysis via Southern blot to assess the size and methylation status. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

A high-resolution chromosomal microarray (HRP) is available as an additional test, which is to identify DNA copy number variants (CNVs) associated with chromosome imbalances including gains and losses throughout the genome, as well as absence of heterozygosity (AOH) that can be indicative of uniparental disomy (UPD) or regions of the genome identical by descent (IBD).

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Comprehensive Autism Spectrum Disorders Panel (228)

 

Related Genes: ABCD1, ACSL4, ADNP, ADSL, AFF2, AGO1, AHI1, AIFM1, ALDH5A1, ANK3, ANKRD11, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARID1A, ARID1B, ARX, ATP13A2, ATP7A, ATP8A2, ATRX, AUTS2, BCKDK, BCL11A, BCOR, BRAF, BRWD3, C12ORF57, CA8, CACNA1C, CASK, CBL, CC2D1A, CCDC22, CDKL5, CDKN1C, CHD2, CHD7, CHD8, CLCN4, CNTNAP2, CREBBP, CTCF, CTNNB1, CUL3, CYP27A1, D2HGDH, DDHD2, DDX3X, DEAF1, DHCR7, DIS3L2, DKC1, DLG3, DMD, DNMT3A, DPYD, DYNC1H1, DYRK1A, EBP, EHMT1, EIF2S3, ELP4, EZH2, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GATAD2B, GDI1, GK, GLI3, GNS, GPC3, GRIA3, GRIK2, GRIN2B, GRIP1, HCCS, HDAC8, HGSNAT, HPRT1, HRAS, HUWE1, IDS, IL1RAPL1, KAT6A, KAT6B, KCTD13, KDM5C, KDM6A, KIF1A, KIRREL3, KMT2A, KRAS, L1CAM, L2HGDH, LAMC3, LAMP2, LAS1L, LINS1, LRP2, MAGEL2, MAN1B1, MAOA, MAP2K1, MAP2K2, MBD5, MBTPS2, MECP2, MED12, MED13L, MED23, MEF2C, MID1, MYT1L, NAA10, NAGLU, NDP, NEXMIF, NF1, NFIX, NHS, NIPBL, NLGN4X, NRAS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAFAH1B1, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGN, PNKP, POGZ, PORCN, PQBP1, PRPS1, PTCH1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAF1, RAI1, RARS2, RBM10, RIT1, RPL10, RPS6KA3, SATB2, SCN1A, SCN2A, SETBP1, SETD2, SETD5, SGSH, SHANK2, SHANK3, SHOC2, SLC16A2, SLC25A1, SLC6A1, SLC6A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SOS1, SOX11, SOX5, SPRED1, STXBP1, SYN1, SYNGAP1, TAF1, TBL1XR1, TBR1, TCF12, TCF20, TCF4, THOC2, TIMM8A, TMEM231, TMLHE, TRAPPC9, TRIO, TSC1, TSC2, TSPAN7, TUBA1A, TUSC3, UBE2A, UBE3A, UNC80, UPF3B, USP9X, VPS13B, WAC, WDR45, WDR81, YWHAE, ZC4H2, ZDHHC9, ZEB2, ZMYND11, ZNF407, ZNF711

Autism spectrum disorders are a group of complex disorders of brain development characterized by difficulties in social interaction, verbal and nonverbal communication, and a restricted set of activities and/or interests. By most recent estimates, ASD effects approximately 1 in 59 children and is four times more likely to be diagnosed in boys than girls. Signs begin early in childhood, with developmental delays in social interaction and language present before 3 years of age, and the associated challenges last throughout a person’s life. In some cases, autism is part of a more complex genetic syndrome with other characteristics, although it can also be isolated. It is estimated that at least 10% of individuals with ASD also develop epilepsy, with a higher prevalence in females and in syndromic cases.

The Comprehensive Autism Spectrum Disorders Panel includes 228 genes that are associated with both syndromic and non-syndromic causes of autism spectrum disorders (ASD). The Comprehensive ASD Panel is recommended if a specific underlying syndrome is not suspected. For patients with a suspected syndrome or disorder, please consider single gene sequencing or associated subpanels prior to ordering the comprehensive panel. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Some of the genes in this panel are not fully penetrant, meaning that an individual may have a genetic with a pathogenic variant but not display any of the signs/symptoms of the disorder. Additionally, these disorders may have variable expressivity indicating that individuals carrying the same pathogenic variant may display differing cellular and clinical features and/or differing severity.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Comprehensive Autism Spectrum Disorders Panel and subpanels offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. For Fragile X, PCR is performed along with capillary electrophoresis for allele sizing. Samples positive for FMR1 CGG repeats in the premutation and full mutation size range have additional analysis via Southern blot to assess the size and methylation status. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

A high-resolution chromosomal microarray (HRP) is available as an additional test, which is to identify DNA copy number variants (CNVs) associated with chromosome imbalances including gains and losses throughout the genome, as well as absence of heterozygosity (AOH) that can be indicative of uniparental disomy (UPD) or regions of the genome identical by descent (IBD).

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Severe Combined Immunodeficiency (SCID) Subpanel (26)

 

Related Genes: ADA, AK2, CD247, CD3D, CD3E, CORO1A, DCLRE1C, DOCK8, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70

Severe Combined Immunodeficiency Disorder (SCID) is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. SCID is a rare disease, with incidence rates estimated at 1 in 40,000-100,000 live births. Infants with SCID appear healthy at birth but are highly susceptible to severe infections.

The Severe Combined Immunodeficiency Disorder Subpanel includes 26 genes to detect the most common forms of SCID and is offered as a subpanel of the Comprehensive Immunodeficiency Panel (250). Most often, SCID is inherited in an autosomal recessive pattern. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Severe Combined Immunodeficiency Subpanel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Primary Immunodeficiency Subpanel (206)

 

Related Genes: ACD, ACP5, ADA, ADA2, ADAR, AICDA, AIRE, AK2, AP3B1, B2M, BTK, C1QA, C1QB, C1QC, C1S, C2, C4A, C5, C8B, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD59, CD79A, CD79B, CD8A, CEBPE, CFD, CFH, CFI, CFP, CHD7, CIITA, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DGKE, DKC1, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, FADD, FAS, FASLG, FCN1, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA2, GATA3, GFI1, HAX1, ICOS, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKBKG, IL10, IL10RA, IL12RB1, IL17RA, IL2RA, IL2RG, IL36RN, IL7R, INO80, IRAK4, IRF7, IRF8, ISG15, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, LAMTOR2, LCK, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP2, MEFV, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, NRAS, ORAI1, PGM3, PIK3CD, PIK3R1, PLCG2, PNP, POLE, PRF1, PRKCD, PRKDC, PTPRC, RAB27A, RAC2, RAG1, RAG2, RBCK1, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RORC, RTEL1, SAMHD1, SH2D1A, SKIV2L, SLC35C1, SLC37A4, SMARCAL1, SP110, SPINK5, STAT1, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCN2, TERC, TERT, TINF2, TLR3, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFSF12, TREX1, TRNT1, TTC7A, TYK2, UNC13D, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24

Primary immunodeficiency diseases (PID) are a group of more than 130 disorders caused by genetic changes in at least a single gene associated with inherited disorders of the immune system. Incidences vary but some studies suggest PIDs may be as common as 1 in 1,200 in the United States.

PIDs first manifest through recurrent infections of variable frequencies beginning from a very young age, although some patients go undiagnosed due to the mild nature of the symptoms. Infections can be localized or systemic and commonly target various areas of the body such as the skin, mucosal membranes, ears, gastrointestinal tract, or more severely, the central nervous system. Infections in those with PIDs often present with greater severity, frequency, persistence, and/or are caused by opportunistic pathogens. Patients with primary immunodeficiency diseases may also exhibit autoimmune symptoms including hypoparathyroidism, adrenocortical failure, hepatitis, primary biliary cirrhosis, thyroiditis, autoimmune hemolytic anemia, type 1 diabetes mellitus, vitiligo, keratoconjunctivitis, ectodermal dysplasia and others.

The Primary Immunodeficiency disease Subpanel includes 206 genes that are associated with Primary immunodeficiency disease and is offered as a subpanel of the Comprehensive Immunodeficiency Panel (250). The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Some of the genes in this panel are not fully penetrant, meaning that an individual may have a genetic with a pathogenic variant but not display any of the signs/symptoms of the disorder. Additionally, these disorders may have variable expressivity indicating that individuals carrying the same pathogenic variant may display differing cellular and clinical features and/or differing severity.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Primary Immunodeficiency Subpanel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Inflammatory Bowel Disease Subpanel (59)

 

Related Genes: ADA, ADAM17, AICDA, BTK, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, FOXP3, G6PC3, ICOS, IL10, IL10RA, IL10RB, IL17RA, IL21, IL23R, IL2RA, IL2RG, IL7R, ITGB2, LIG4, LRBA, LYST, MEFV, MVK, NCF2, NCF4, NHEJ1, NLRC4, NOD2, ORAI1, PIK3CD, PIK3R1, PLCG2, PNP, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RTEL1, SH2D1A, SLC37A4, STAT1, STAT3, STX11, STXBP2, TTC7A, WAS, XIAP, ZAP70

Inflammatory bowel disease (IBD) is comprised of ulcerative colitis, Crohn’s disease and unclassified IBD. In the United States, it is currently estimated that 1.3% of adults have been diagnosed with IBD. The main symptoms may include diarrhea, abdominal pain, weight loss, bloody stool, fever, fatigue, and reduced appetite. However, ulcerative colitis is confined to the colon while Crohn’s disease can be a multi-organ disorder, affecting the entire gastrointestinal tract and sometimes exhibiting involvement from the eyes, liver, joints, and additional body systems. Diagnosis may occur at any stage in life although most symptoms develop before 30 years old. IBD is more prevalent amongst individuals with Ashkenazi Jewish background.

The Inflammatory bowel disease Subpanel includes 59 genes and is offered as a subpanel of the Comprehensive Immunodeficiency Panel (250). The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Some of the genes are not fully penetrant, meaning that an individual may have a mutated gene but not display any of the signs/symptoms of the disorder. Additionally, these disorders may have variable expressivity indicating that individuals carrying the same pathogenic variant may display differing features and/or differing severity.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: Inflammatory Bowel Disease Subpanel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Comprehensive Immunodeficiency Panel (250)

 

Related Genes: ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, B2M, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CCDC39, CCDC40, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD59, CD79A, CD79B, CD81, CD8A, CEBPE, CFB, CFD, CFH, CFHR1, CFHR3, CFI, CFP, CHD7, CIITA, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DGKE, DKC1, DNMT3B, DOCK2, DOCK8, DUOX2, ELANE, EPCAM, EPG5, FADD, FAS, FASLG, FCN1, FERMT1, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA2, GATA3, GFI1, GUCY2C, HAX1, HPS1, HPS4, HPS6, ICOS, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKBKG, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL18, IL18RAP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RG, IL36RN, IL7R, INO80, IRAK4, IRF7, IRF8, IRGM, ISG15, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, LAMTOR2, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MASP2, MEFV, MRE11, MVK, MYD88, MYO5B, NBN, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, NRAS, ORAI1, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLE, PRF1, PRKCD, PRKDC, PTEN, PTPRC, RAB27A, RAC2, RAG1, RAG2, RBCK1, RET, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RORC, RTEL1, SAMHD1, SBDS, SERPING1, SH2D1A, SKIV2L, SLC35C1, SLC37A4, SLC9A3, SMARCAL1, SP110, SPINK5, STAT1, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCN2, TERC, TERT, TINF2, TLR3, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFSF12, TREX1, TRIM22, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24

Inherited disorders of the immune system include over 300 known diseases with prevalence rates of more than 1 in 1,000 in the US. Many immunodeficiency diseases are caused by genetic defects. Symptoms and severity can range from a susceptibility to infection and gastrointestinal disorders to the inability to survive in non-sterile environments.

The Comprehensive Immunodeficiency Panel includes 250 genes, encompassing the following subpanels: Primary Immunodeficiency (206 genes), Inflammatory Bowel Disease (59 genes), and Severe Combined Immunodeficiency (26 genes). The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorders from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Comprehensive Immunodeficiency Panel and subpanels offered by Sema4 primarily utilize next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources:


 

Pulmonary Hypertension Panel (10)

 

Related Genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, and SMAD9.

Pulmonary arterial hypertension (PAH) is marked by obstruction of the small pulmonary arteries leading to an increase in resistance to blood flow through the lungs. The abnormally elevated pressure in the pulmonary circulation system can lead to progressive heart failure with initial symptoms including dyspnea, fatigue, syncope, chest pain, palpitations, and leg edema. PAH can be heritable and familial cases show an autosomal dominant pattern of inheritance. Several genes have been associated with heritable PAH with the majority of cases (75%) being caused by pathogenic variants in the BMPR2 gene. BMPR2 variants typically show significantly reduced penetrance (~20%) while the penetrance of variants in other PAH associated genes is poorly understood.

The disorders included in this panel may be inherited in an autosomal dominant (AD) or autosomal recessive (AR) manner.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorder from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Pulmonary Hypertension Panel and subpanels offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

Related Tests:

 

Resources: