This test is designed to detect individuals at risk of transmitting Fragile X related FMR1 gene 5’UTR CGG repeat expansions. Fragile X syndrome is one of the most common forms of inherited intellectual disability. Fragile X syndrome is an X-linked disorder that affects both males and females, but males are usually more severely affected.read more

Tests Available

By gene: FMR1
PCR Fragment Length Analysis
$111
Test Code: 6004
Please call for pricing

Test Details

Technical Information
Genes: 
FMR1
Test Note: 
Please call for pricing
Disease Groups: 
Carrier Screening
MIM: 
300624
300623
311360
Billing
CPT Codes: 
81243 x 1
Ordering
SKU:
6004
Turnaround Time: 

Typically within 2 weeks from receipt of a sample in the laboratory

Non-Prenatal Specimens: 

1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml

2. Genomic DNA: a minimum of 3 ug (at a concentration of at least 30 ng/ul)

Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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