Test description
- Cystic Fibrosis
- Fragile X
- Spinal Muscular Atrophy
*Medicare Criteria Apply
Test information
Test name
Genetic Carrier Screening
Clinical indication
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.
Gene(s)
CFTR, SMN1, FMR1
Method
CF: allele-specific PCR fragment size analysis;
SMA: PCR/Capillary Electrophoresis
FXS: PCR Fragment Sizing
Turn around time
10 - 12 working days
Price
$385 if not Medicare eligible
Test request form
Standard pathology request form
Sample type
6mL EDTA tube
Collection type
Blood
Special instructions
The male reproductive partner will only be tested for the condition his female reproductive partner is positive for, i.e. CF or SMA