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Catalog ID Maternal Carrier Maternal Carrier Screening / Harmony

Important Note

Order: Ref Misc Referral Lab Test

Comment: Harmony Maternal Carrier Screening

Specimen Requirements

Request specimen collection kit from the Specimen Referral Laboratory at 706-721-4868 or send the patient to the 2nd floor MOB Laboratory. OBGYN clinics should maintain a supply in-clinic.

Turn Around Time

7-14 days

Performing Laboratory

Otogenetics

https://www.otogenetics.com/products/clinical-genetic-testing/carrier-screening/

Methodology

Next-Generation Sequencing

Additional Testing

Should the mother be determined to be a carrier for any tested condition screened through this test, the presumed father of the fetus can be tested at no additional charge*.

*except when mother was self-pay

Panels Available

1) Basic with CF: Alpha-Thalessemia, Beta hemoglobinopathies + Sickle Cell, Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Spinal Muscular Atrophy

2) ACOG/ACMG: Alpha-Thalessemia, Beta Hemoglobinophaties + Sickle Cell, Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Familial Dysautonomia, Fanconi Anaemia, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Disease (type A and B), Spinal Muscular Atrophy, Tay-Sachs Disease

3) Ashkenzai Jewish Diseases: 38 syndromes/diseases

4) Pan-Ethnic: 167 syndrome/diseases