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Gorlin syndrome
Basal cell nevus syndrome
Nevoid basal cell carcinoma syndrome
PTCH (Human homolog of drosophila patched)
The exons of the PTCH gene are screened for mutations first by a fluorescent bi-directional dideoxyfingerprinting (ddF) method. Any exon with an unusual fingerprint is subjected to bi-directional sequencing. We have found the ddF method to be a completely efficient screen, i.e. the method identified 100% of mutations found by sequencing alone. The analysis is done on genomic DNA obtained from EDTA blood.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
PTCH, patched, Gorlin, Gorlin Syndrome, basal cell, basal cell nevus syndrome, NBCC, jaw cyst, BCC, skin cancer, macrocephaly
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