Molecular Genetic Testing
Genetic forms of Malformation (Mutation Screening in the GLI3-Gene)

Indication and Diagnostic Value

Single mutations in the GLI3-gene are responsible for a number of distinct genetic syndromes that are all dominant autosomally passed to offspring:

• Greig Cephalopolysyndaktyly-Syndrome (GCPS)
• Pallister-Hall-Syndrome (PHS)
• Postaxiale Polydaktyly type A (PAP-A)
• Präaxiale Polydaktyly type IV (PPD IV)

Patients with one of these syndromes carry a normal karyotype following chromosomal analysis. To prove a clinical diagnosis requires to screen for disease-associated mutations in the GLI3-gene.
Though the spectrum of clinical symptoms is even between family members quite various, most cases have in common malformation of limbs, particularly polydactyly. All GLI3-gene linked diseases are autosomal dominant disorders of high penetrance.

Samples and Test Method

EDTA blood is required. The PCR based test includes DNA sequence analysis of all 15 exons including intron - exon borders of the GLI3-Gen. The specificity is close to 100%.

Turnaround time for this test is 4 weeks.

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