Parents playing with their children
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

*Testing for these mutations is recommended by the American College of Medical Genetics (ACMG).

Test Specifics

Turn around time: Results can be expected 14 business days 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.

Our Goal is to Educate and Empower

Know your choices, understand your options, and talk you your healthcare provider about the best prenatal screening program for you.

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