1p36.33 Microdeletion Syndrome

1p36 FISH

Clinical Presentation

 Craniofacial abnormalities, developmental delay, hypotonia, learning disability, hearing loss, heart problems and seizures. 

Indications for Testing

(inc. hypertrichotic osteochondrodysplasia) CEB108/T7 and D1Z2 Terminal and interstitial deletions detected. 

Specimen Requirements

5-10 ml blood sample. 1p36 FISH (Fluorescence In Situ Hybridization). The detection rate of FISH analysis for this disorder is approximately 95%.

Turnaround Time

8 weeks

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