Carrier screening for recessive conditions
This component of the Pan-Ethnic Carrier Screen tests for 689 pathogenic variants in 134 genes, as well as full gene deletion and duplication analysis for 2 genes (HBA1 and HBA2) causing autosomal recessive conditions. It includes screening for conditions that cause mobility issues, developmental delay, visual impairment, hearing loss, intellectual disability, skin irregularities, joint and bone disorders, abnormalities of the nervous system, and numerous metabolic syndromes. None of these conditions has a cure, but some can be well managed with diet or medication (e.g. PKU or biotinidase deficiency). Many of these conditions, however, can result in a shortened lifespan or require continued medical care (e.g. Tay-Sachs Disease or Cystic Fibrosis).
Carrier screening for X-linked conditions, including Fragile X Syndrome Repeat Analysis
This component of the test screens for 29 pathogenic variants in 7 genes causing X-linked recessive conditions. This testing includes repeat analysis for Fragile X Syndrome, the most common genetic form of intellectual disability in males. Females who are carriers for one of these conditions are at risk to pass the disease on to their sons.
Please note this panel will be performed and reported on both male and female specimens. Because of the nature of X-linked inheritance, this test, if positive, may be diagnostic for male patients in rare cases.
This targeted carrier panel evaluates select, previously known, pathogenic/likely-pathogenic variants. It is designed to screen for the most common disease-causing mutations associated with each gene.
ABCC8, ACADM, ACADS, ACADVL, ACAT1, AGA, AGL, AGXT, AIRE, ALDH3A2, ALDOB, ALPL, ARSA, ARSB, ASL, ASPA, ASS1, ATM, ATP7B, BBS1, BBS10, BCKDHA, BCKDHB, BCS1L, BLM, BTD, CAPN3, CBS, CFTR, CHM, CLN3, CLN5, CLN8, CLRN1, CNGB3, CPT1A, CPT2, CTNS, CTSC, CTSK, CYP1B1, CYP21A2, DBT, DHCR7, DLD, DMD, DPYD, EDAR, ELP1, F11, F9, FAH, FANCC, FH, FKTN, FMR1, G6PC, G6PD, GAA, GALC, GALNS, GALT, GBA, GCDH, GHRHR, GJB2, GJB6, GLA, GLB1, GNE, GNPTAB, GP1BB, GP9, GRHPR, GUSB, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HFE, HMOX1, HSD17B4, IDS, IDUA, IVD, LAMA3, LAMB3, LAMC2, LIPH, MAN2B1, MCOLN1, MECP2, MEFV, MLC1, MMAA, MMAB, MMACHC, MPI, MUT, NAGLU, NBN, NEB, NLRP7, NPC1, NPC2, NPHS1, NPHS2, OPA3, OTC, PAH, PANK2, PCDH15, PEX1, PEX7, PKHD1, PMM2, POMGNT1, PPT1, PROP1, PYGM, RMRP, RS1, SACS, SERPINA1, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A2, SLC22A5, SLC26A2, SLC26A4, SLC37A4, SMN1, SMPD1, TH, TMEM216, TPP1, TTC37, TTPA, TYR, VPS13B, WISP3, WRN
Next Generation Sequencing: Clinical Sensitivity: See results report. Pathogenic variants in regions other than the targeted area, including the promoter region, some mutations in the introns and other regulatory element mutations, cannot be detected by this analysis. Large deletions/duplications will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient’s clinical/biochemical phenotype.
Analytical Sensitivity: ~99%.
For Fragile X Syndrome Repeat Analysis: All cases of Fragile X Syndrome caused by CGG expansion will be detected by this assay. Rare cases of Fragile X Syndrome caused by other pathogenic variants in the FMR1 gene will not be detected by this assay.
Reference Range For Fragile X Testing:
Normal: Approximately 5-44 CGG repeats.
Intermediate: Approximately 45-54 unmethylated CGG repeats.
Premutation: Approximately 55-200 CGG repeats and methylation of expanded allele.
Affected: Over 200 CGG repeats and methylation of expanded allele.
For Spinal Muscular Atrophy (SMA) Testing: Deletions of the SMN1 gene are found in approximately 95% of individuals with SMA. This carrier assay tests for the common SMN1 deletion only; other pathogenic variants will not be detected. Approximately 5-8% of carrier individuals will have a normal SMN1 copy number of two, but both copies will be on the same chromosome (in cis) with a deletion on the second chromosome. This assay will not detect these carrier individuals. SMN2 copy number is not assessed.
Alpha-Thalassemia Analysis: This assay will detect the pathogenic variants specified above, accounting for over 85% of Alpha-Thalassemia cases.
Turn around time: Results can be expected 2 weeks from the time that the sample is received at the laboratory.
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Genetic carrier screening is performed through our sister laboratory, Eurofins EGL Genetics.
Eurofins EGL Genetics has been providing superior, cutting-edge service for more than 47 years. Their expertise spans common and rare genetic disease testing, genomic variant interpretation, test development, and research. Eurofins EGL Genetics is a CLIA-certified and CAP-accredited laboratory. They work with clients across the United States and from more than 45 countries to help improve patient diagnosis.
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