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Explore our test catalog
With state-of-the-art technology, high detection rates, and an unparalleled service model, our lab provides simple and accurate genetic and genomic screening. Our testing catalog includes molecular, cytogenetic, and biochemical analyses, allowing for the accommodation of even the most unique of cases.
Expanded Carrier Screening
- Expanded Carrier Screen (502 Genes)
- Expanded Carrier Screen (283 Genes)
- Expanded Carrier Screen (152 Genes)
- Expanded Carrier Screen (39 Genes)
- Comprehensive Jewish Carrier Screen (101 Genes)
- East Asian Carrier Screen (95 Genes)
- High Frequency Carrier Screen (11 Genes)
- Standard Pan-ethnic Screening Panel (4 Genes)
Additional panels are available. Please contact Sema4 at (800) 298-6470 to inquire.
Noninvasive Prenatal Screening
Infertility Testing
Cytogenetics
- SRY FISH
- 1p36 Deletion Syndrome FISH Analysis
- Chromosome Analysis
- Chromosomal Microarray: aCGH and SNP Testing
- Angelman Syndrome FISH
- Aneuploidy FISH Panel
- Cri du Chat Syndrome FISH
- 22q11.2/DiGeorge/Velocardiofacial Syndrome FISH Analysis
- Smith-Magenis Syndrome FISH
- Miller-Dieker Syndrome FISH
- Prader-Willi Syndrome FISH
- Williams Syndrome FISH
- Wolf-Hirschhorn Syndrome FISH
Molecular
- Noonan Spectrum Disorders (18 genes)
- Limb Defects Sequencing Panel
- FGFR3 Hotspot Panel with Reflex to Full Gene Sequencing
- Fragile X Syndrome
- Maternal Cell Contamination
For prenatal samples and single gene prenatal diagnostic testing, please contact our laboratory at 800–298–6470 for more information.
Pharmacogenetic
- Cardiovascular Pharmacogenetic Genotyping Panel
- Comprehensive Pharmacogenetic Genotyping Panel
- Epilepsy Pharmacogenetic Genotyping Panel
- Oncology Pharmacogenetic Genotyping Panel
- Pain Pharmacogenetic Genotyping Panel
- Pediatric Pharmacogenetic Genotyping Panel
- Psychiatric Pharmacogenetic Genotyping Panel
Sema4 Signal Hereditary Cancer
- Brain and Neurological Tumor Panel
- BRCA1 BRCA2 Cancer Panel
- BRCA Ashkenazi Jewish Panel
- Breast and Gynecological Cancer Panel
- Breast Guidelines Cancer Panel
- Colorectal Cancer Panel
- Comprehensive Panel
- Endocrine Tumor Panel
- High Prevalence Panel
- Lynch Syndrome Panel
- Melanoma Panel
- Pancreatic Panel
- Pancreatic Plus Panel
- Pediatric Panel
- Prostate Panel
- Renal and Urinary Panel
- Tyrer Cuzick Score
- Universal Panel
Sema4 Signal WES/WTS, PanCancer, & Solid Tumor
Other
Diagnostic Panels
- Cardiovascular Panels
- Hearing and Vision Loss Panels
- Immunodeficiency Panels
- Natalis with Pharmacogenetic Analysis
- Neurodevelopmental Panels
Other
- Chitotriosidase DNA
- Craniosynostosis Testing
- Fabry Disease
- Hexosaminidase A (Tay-Sachs Disease)
- Limb Defects Sequencing Panel
- Lysosomal Acid Lipase Full Gene Sequencing
- Skeletal Dysplasias: FGFR3 Hotspot Panel with Reflex to Full Gene Sequencing
- Porphyria Testing
For prenatal samples and single gene diagnostic testing, please contact the laboratory at 800–298–6470 for more information.
Cytogenetic and Cytogenomic
FISH
- SRY FISH
- 1p36 Deletion Syndrome FISH Analysis
- Aneuploidy FISH Panel
- Cri du Chat Syndrome FISH
- 22q11.2/DiGeorge/Velocardiofacial Syndrome FISH Analysis
- Kallmann Syndrome FISH
- Miller-Dieker Syndrome FISH
- Prader-Willi Syndrome FISH
- Smith-Magenis Syndrome FISH
- Steroid Sulfatase Deficiency FISH
- Williams Syndrome FISH
- Wolf-Hirschhorn Syndrome FISH
Cytogenetic
Biochemical Genetic Testing
- Acid α-Glucosidase (Pompe Disease)
- α-Galactosidase A
- α-L-iduronidase (MPS I)
- Acid β-Glucosidase (Gaucher Disease)
- Acid Sphingomyelinase (Niemann-Pick A/B)
- Acute Intermittent Porphyria
- Acylcarnitine Profile
- Amino Acids Full Panel
- Amino Acids Selective Panel
- β-galactocerebrosidase (Krabbe Disease)
- Carnitine Concentration Profile
- CDG N-Glycan Profile
- CDG O-Glycan Profile
- CDG Transferrin Analysis
- Chitotriosidase (Gaucher Disease Biomarker)
- Fabry Disease
- Hereditary Coproporphyria
- Hexosaminidase A (Tay-Sachs Disease)
- Hexosaminidase B (Sandhoff Disease)
- Lysosomal Acid Lipase Enzyme Analysis
- Methylmalonic Acid
- Organic Acids, Urine
- Orotic Acid, Urine
- Phenylalanine and Tyrosine
- Plasma and Urine Aminolevulinic Acid and Porphobilinogen
- Plasma Lyso-GL1 Analysis
- Plasma Psychosine Analysis
- Quantitative GAG Analysis
- Quantitative Keratan Sulfate Analysis
- Succinylacetone
- Tamoxifen Metabolites
- Variegate Porphyria
