|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|
*Testing for these mutations is recommended by the American College of Medical Genetics (ACMG).
Turn around time: Results can be expected 14 business 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.Learn More
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.