ACOG/ACMG Carrier Screen:Targeted Mutation Panel

What Is the ACOG/ACMG Carrier Screen: Targeted Mutation Panel?

Test components:

  • Carrier screening for Cystic Fibrosis and Spinal Muscular Atrophy (SMA) as recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG)
  • Carrier screening for three other autosomal recessive conditions (Tay-Sachs Disease, Canavan Disease, and Familial Dysautonomia) common to those of Ashkenazi Jewish descent, as recommended by ACOG, and five additional conditions (Bloom Syndrome, Fanconi Anemia Type C, Gaucher Disease, Niemann-Pick Disease Type A and B, and Mucolipidosis Type IV), as recommended by ACMG
  • Carrier screening for hemoglobinopathies (Alpha-Thalassemia, Beta-Thalassemia, Sickle Cell Anemia) as recommended by ACOG if ethnicity (African, Mediterranean, Middle Eastern, Southeast Asian, or West Indian descent) or red blood cell indices from a complete blood count indicate an elevated risk
Pregnant woman and partner speaking with doctor

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

Learn more about testing specifics

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 2 weeks from the time that the sample is received at the laboratory.

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Trust

Genetic carrier screening is performed through our sister laboratory, Eurofins 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. Eurofins 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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