Test description
- Cystic Fibrosis
- Fragile X
- Spinal Muscular Atrophy
*Medicare Criteria Apply
Test information
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. AGG interrupt analysis will be performed for female carriers of small pre-mutations (55-69 repeats) where AGG interrupts are known to affect the reproductive risk.
CFTR, SMN1, FMR1
CF: Next Generation Sequencing (NGS)
SMA: PCR/Capillary Electrophoresis
FXS: PCR Fragment Sizing and Long Read Sequencing where clinically indicated
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