Test Details
| Condition | Gene | Mutations |
| Bloom Syndrome | BLM | 2281del6ins7, 2407insT, Q645X, Q700X, R899X |
| Canavan Disease | ASPA | 433-2A>G, Y231X*, A305E, E285A |
| Cystic Fibrosis | CFTR | 142 mutation panel including 23 ACMG recommended mutations |
| Familial Dysautonomia | IKBKAP | 2204+6T>C, R696P |
| Fanconi Anemia Type C | FANCC | 322delG, IVS4+4A>T, R548X, Q13X, R185X, L554P |
| Gaucher Disease Type 1 | GBA | 84GG, del55bp, IVS2+1G>A, D409H, D409V, L444P, N370S, R463C, R463H, R496H, V394L |
| Mucolipidosis Type IV | MCOLN1 | Exon1 – Exon7del (Del6.4kb), IVS3-2A>G |
| Niemann-Pick Type A | SMPD1 | fsP330, R610del, H423Y, L302P,R476W, R496L, T324I |
| Spinal Muscular Atrophy | SMN1 | Gene dosage |
| Tay-Sachs Disease | HEXA | 1278insTATC, del7.6kb, 1421+1G>C, IVS7+1G>A, IVS9+1G>A, E462V, G250D, G269S, R170W, R178H, R247W, R249W |
Detection
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 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. SMN2 copy number is not assessed.
Test Results
Turn around time: Results can be expected 15 days from the time the sample is received at the laboratory.
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Sample Report
View a complete ACOG/ACMG Carrier Screen: Targeted Mutation Panel sample report.
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Specimen Requirements and Shipping Instructions
View the NTD Genetic Testing Sample Collection and Shipping Requirements Sheet.
Learn more about why NTD Eurofins has been the laboratory to trust for over 30 years.
Learn MoreGenetic 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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