Greig Cephalopolysyndactyly, Pallister-Hall Syndrome

Disorders

Greig Cephalopolysyndactyly, Pallister-Hall syndrome, Isolated Polydactyly

Gene Name GLI3
Clinical info

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.

Pallister-Hall syndrome is also caused by mutations in GLI3. Pallister-Hall is characterized by multiple anomalies with a spectrum of severity reported.  the most common anomalies are polydactyly, bifid epiglottis, larynotracheal cleft and hypothalamic hamartoma.  Less common findings include renal and genitourinary abnormalities, imperforate anus, pulmonary segmentation and other skeletal anomalies.

Both of these disorders are inherited in an autosomal dominant pattern.

Mutations in GLI3 have also been associated with isolated polydactyly.

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.
Detection

Sequencing of GLI3 will identify the underlying genetic defect in approximately 70% of cases of Greig Cephalopolysyndactyly.

Approximately 95% of patients with Pallister-Hall syndrome will have a mutation in GLI3.

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: 81479

Known mutation: 81479

Deletion/Duplication Analysis: 81229
Cost $1800 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

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.

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