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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

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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.

Learn more about why NTD Eurofins has been the laboratory to trust for over 30 years.

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Trust

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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