Greig Cephalopolysyndactyly, Pallister-Hall Syndrome
Greig Cephalopolysyndactyly, Pallister-Hall syndrome, Isolated Polydactyly
Major finding of Greig Cephalopolysyndactyly include macrocephaly, ocular hypertelorism, preaxial polydactyly and cutaneous syndactyly. Preaxial polydactyly must be present on at least one limb, but may include multiple limbs and affect hands or feet. Postaxial polydactyly has also been reported. Patients on the severe end of the spectrum may have seizures, hydrocephalus, and intellectual disability in addition to the above findings.
|Indications||Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.|
Sequencing of GLI3 will identify the underlying genetic defect in approximately 70% of cases of Greig Cephalopolysyndactyly.
|Specimen Requirements||5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.|
|Transport||The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.|
|Turnaround time||6 weeks|
|Prenatal testing||Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.|
|CPT Codes||Unknown mutation
|Cost||$1800 for sequencing
$350 for known mutation
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.