Carrier screening for recessive conditions
This component of the Pan-Ethnic Carrier Screen tests 138 genes that cause autosomal recessive conditions. It is the most extensive carrier screen to date and includes conditions of mobility, 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 10 genes that cause 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. If you do not wish to have X-linked conditions assessed in male patients, please contact the laboratory.
This expanded panel is NTD’s most comprehensive carrier screen, offering full gene sequencing of 148 genes. Analysis of the entire coding region allows for detection of more rare mutations.
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.
Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype. Only the following genes are included in the deletion/duplication analysis: CFTR, DMD, and MECP2.
Alpha-thalassemia Analysis: This assay will detect the pathogenic variants specified above, accounting for over 90% of alpha-thalassemia cases. The presence of less common deletions may also be detected by MLPA.
Turn around time: Results can be expected 4 weeks from the time the sample is received at the laboratory.
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Genetic carrier screening is performed through our sister laboratory, 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. 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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