5216 Bloom Syndrome GenotypR™ - Carrier Testing

Specimen Requirements
1 Whole Blood EDTA 5 (3) mL   Ambient - 7 Day(s), Refrigerated - 7 Day(s) See COLLECTION INSTRUCTIONS. 
  Whole Blood ACD 5 (3) mL   Ambient - 7 Day(s), Refrigerated - 7 Day(s)  

Clinical utility
Detects a single mutation (2281del6/ins7) in the Bloom Syndrome gene for carrier assessment in adult patients. The 2281del6/ins7 mutation is responsible for approximately 97% of mutant alleles in Ashkenazi Jewish Population.

Collection Instruction
EDTA is preferred but ACD is also acceptable. Heparinized whole blood
is not acceptable. Ambient is preferred and refrigerated is
acceptable; frozen is not acceptable.

Reported: Next day

CPT Code: 83891, 83892x2, 83898, 83909, 83912, 83914

Notes: Carrier detection will be performed only for adult patients and pregnant minors. Prior carrier risk (the risk, before testing, that an asymptomatic patient is carrier) and revised carrier risk (the risk that the same patient is a carrier after a negative test), based on family history and ethnicity are provided in a patient-specific reports. Informed consent is required for residents of New York. Consent form is available on our website: www.specialtylabs.com. CPT Codes: 83891, 83892x2, 83914, 83898, 83909, 83912