Samples should be kept and shipped refrigerated or at room temperature. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested. 1 cheek swab specimen collected from ORAGENE kit from the patient is required.Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek.Please contact our laboratory to obtain saliva kits Saliva specimens are accepted upon request.A minimum of 10 μL DNA (50-250 ng/μL) is required for testing.Send in previous report of known familial variant with specimen.Parental blood samples may be used for maternal cell contamination studies or confirmation studies. 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent.Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi.Prenatal testing for a known familial variant: 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. One blood tube from both parents is requested.ġ yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Prenatal diagnosis is also available for known familial variants please contact our laboratory at 80 to discuss prior to sending any prenatal samples.Ģ yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required.
Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on 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. UHRMEA provides single exon level coverage for the majority of the exons within this panel.
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. 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. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Methods: The Severe Combined Immunodeficiency Subpanel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.Ĭlinical 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. Most often, SCID is inherited in an autosomal recessive pattern. 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). Infants with SCID appear healthy at birth but are highly susceptible to severe infections.
SCID is a rare disease, with incidence rates estimated at 1 in 40,000-100,000 live births. 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. 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 (SCID) Subpanel (26)