Screening for Cystic Fibrosis, Fragile X, and Spinal Muscular Atrophy.
*Medicare Criteria Apply
Genetic Carrier Screening
Testing of a patient who is pregnant, or planning pregnancy, to identify carrier status for the purpose of determining reproductive risk of cystic fibrosis, spinal muscular atrophy or fragile X syndrome; and in their reproductive partner if the female is identified as a carrier.
CFTR, SMN1, FMR1
CF: allele-specific PCR fragment size analysis;
SMA: PCR/Capillary Electrophoresis
FXS: PCR Fragment Sizing
10 - 12 working days
$385 if not Medicare eligible
Standard pathology request form
6mL EDTA tube
Blood
The male reproductive partner will only be tested for the condition his female reproductive partner is positive for, i.e. CF or SMA
