Tyrer Cuzick Score

Description of test:

The Tyrer-Cuzick model is a risk assessment tool that uses the patient’s personal and family history information, as well as BRCA1/2 genetic testing status, to ascertain risk for developing breast cancer. Based on the patient’s Tyrer-Cuzick risk score, modified medical management may be indicated for the patient. A provider that orders any hereditary cancer genetic test that includes the BRCA1 and the BRCA2 genes can also order a Tyrer-Cuzick risk score calculation in conjunction. However, a Tyrer-Cuzick risk score cannot be ordered/reported if a patient is male, is above 84 years old, has had a diagnosis or personal history of breast cancer.

Requirements


Resources

Tyrer-Cuzick Model Supplemental Order Form
Hereditary Cancer Requisition
Hereditary Cancer Re-Requisition
Hereditary Cancer Genetic Testing Consent
Hereditary Cancer Provider Brochure

STAT Autism Spectrum Disorder Subpanel (30)

 

Related Genes: AHI1, AP1S2, ARX, CACNA1C, CDKL5, CNTNAP2, DHCR7, FMR1, GPC3, GRIA3, IL1RAPL1, KDM5C, MECP2, NLGN4X, NRXN1, NSD1, OPHN1, OTC, PCDH19, PTCHD1, PTEN, RAB39B, SHANK2, SHANK3, SLC6A8, SLC9A6, TSC1, TSC2, UBE3A, UPF3B

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 STAT ASD Subpanel tests for 30 genes associated with ASD with an expedited turnaround time of 7-10 business days. We estimate that approximately 5% of ASD patients will have a disease-causing variant in one of the 30 genes on the STAT ASD Subpanel. 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 STAT ASD 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. 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:


 

Syndromic Epilepsy and Intellectual Disability Subpanel (93)

 

Related Genes: AP1S2, ARFGEF2, ASPM, ATP2A2, ATP6AP2, ATP6V0A2, ATR, ATRX, CASK, CCDC88C, CNTNAP2, CREBBP, CUL4B, DCX, DYRK1A, EEF1A2, EHMT1, FGD1, FLVCR2, FOXG1, GAMT, GATM, GLI2, GPC3, GRIA3, GRIN1, HCN4, HNRNPU, HSD17B10, IQSEC2, KANSL1, KCNA1, KCNA2, KCNJ1, KCNJ10, KDM5C, KIF1BP, KMT2D, LBR, LGI1, MBD5, MCPH1, MECP2, MEF2C, MTOR, NIPBL, NRXN1, OPHN1, PAK3, PANK2, PHF6, PIGV, PLA2G6, PLP1, POLG, PQBP1, RAB39B, RAI1, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCN1A, SCN5A, SETBP1, SHANK3, SLC12A5, SLC19A3, SLC25A19, SLC2A1, SLC4A10, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNAP25, SNAP29, ST3GAL5, SYN1, SYNGAP1, SYP, TBX1, TCF4, TREX1, TSC1, TSC2, UBE3A, VANGL1, VPS13A, VPS13B, WDR62, 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. The Syndromic Epilepsy and Intellectual Disability Panel includes epileptic syndromes and epilepsies with intellectual disability.

The Syndromic Epilepsy and Intellectual Disability Subpanel includes 93 genes that are associated with syndromic genetic causes of epilepsy. It is offered as a subpanel of the Comprehensive Epilepsy Panel (226). 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 Syndromic Epilepsy and Intellectual Disability 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: 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:


 

Neuronal Migration Subpanel (22)

 

Related Genes: ADGRG1, COL18A1, COL4A1, EMX2, FGFR3, FKRP, FLNA, LARGE1, PAFAH1B1, PAX6, POMGNT1, POMT1, POMT2, PQBP1, RELN, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1

Neuronal migration disorders are brain development disorders caused by a disruption in the migration of neuroblasts to their specified regions of the brain during neurogenesis. The affected areas of the brain do not have the appropriate neural connections, and therefore do not function properly. The signs and symptoms of a neuronal migration disorder vary depending on the area of the brain affected, but frequently include seizures, developmental delay, intellectual disability, microcephaly, and hypotonia. The most common seizure types include tonic-clonic and absence seizures.

The Neuronal Migration Subpanel includes 22 genes and is offered as a Subpanel of the Comprehensive Epilepsy Panel (226). 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 Neuronal Migration 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:


 

Neuronal Ceroid Lipofuscinoses Subpanel (9)

 

Related Genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1

Neuronal ceroid lipofuscinoses (NCL) are a group of lysosomal storage disorders (LSD) characterized by epilepsy, dementia, motor function impairment, vision loss and ataxia. They result from excessive accumulation of the storage material lipofuscin in lysosomes and have a variable age of onset from infantile to adulthood. The most prevalent NCLs are classic juvenile CLN3 disease and classic late infantile CLN2 disease.

The Neuronal Ceroid Lipofuscinoses Subpanel includes 9 genes and it is offered as a subpanel of the Comprehensive Epilepsy Panel (226). 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 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 Neuronal Ceroid Lipofuscinoses 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, 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:


 

Microcephaly Panel (78)

 

Related Genes: ACTB, ACTG1, ADGRG1, ARFGEF2, ARX, ASPM, ATR, ATRIP, CASK, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP63, CREBBP, DCX, DHCR7, DISP1, DLL1, DYNC1H1, EP300, ERCC6, ERCC8, FGF8, FKRP, FKTN, FOXG1, FOXH1, GAS1, GLI2, HDAC8, KIF11, KIF2A, KNL1, LARGE1, MCPH1, MECP2, MED17, MRE11, NBN, NDE1, NHEJ1, NIN, NIPBL, NODAL, PAFAH1B1, PCNT, PHGDH, PNKP, POMGNT1, POMT1, POMT2, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RBBP8, RELN, RNU4ATAC, SHH, SIX3, SLC25A19, SLC9A6, SMC1A, SMC3, STAMBP, STIL, TDGF1, TGIF1, TUBA1A, TUBG1, UBE3A, VLDLR, WDR62, ZIC2

Microcephaly, holoprosencephaly and lissencephaly are genetically heterogeneous developmental syndromes caused by germline mutations in genes involved in cell proliferation, neuronal migration, and post-migrational cortical development pathways. The general incidence of microcephaly varies from 1.3 to 150 per 100,000 live births. Performing genetic testing can be clinically useful as congenital and postnatal microcephaly could present as an isolated finding in an individual, as part of an underlying syndrome, or be associated with other brain malformations such as cerebellar hypoplasia.

The Microcephaly Panel analyzes 78 genes that have been associated with microcephaly, holoprosencephaly, and/or lissencephaly. Some of the conditions in this panel are associated with microcephaly as part of a more complex syndrome with other clinical features. 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 Microcephaly 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:


 

Migraine Subpanel (7)

 

Related Genes: ATP1A2, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC2A1

Migraines can cause severe throbbing pain or a pulsing sensation. It can be accompanied by nausea, vomiting, and extreme sensitivity to light and sound. Migraines are common in people with epilepsy. Epilepsy is a neurological condition that is characterized by recurrent, unprovoked seizures. Individuals with epilepsy may also develop other neurological problems as a result of recurrent seizures. Both migraines and epilepsy are characterized by episodes of neurologic dysfunction, accompanied by headache, gastrointestinal, autonomic, and psychological manifestations. They can precede or succeed each other or occur simultaneously. The clinical presentation may overlap and be difficult for diagnosis.

The Migraine Subpanel includes 7 genes that are associated with hereditary forms of migraines. All genes on the Migraine Subpanel are also found on the Comprehensive Epilepsy Panel (226 genes). For some of the conditions, migraines may be a part of a more complex genetic syndrome with other characteristics. 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 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 Migraine 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: