Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene.
Typical Presentation: Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia.
Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting
Lavender (EDTA), 10mL
Ambient (preferred) - 10 days
Refrigerated - 10 days
Frozen - NO
Repeat Expansion Detection by PCR, Southern Blot
< 177 base pairs
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.