Genitopatellar syndrome (GTPTS; MIM 606170) is a rare autosomal dominant disorder characterized by hypoplastic or absent patella and genital abnormalities. Other common features include microcephaly, mental retardation, agenesis of the corpus callosum, joint contractures, club feet, renal anomalies and coarse facial features. Cardiac defects are seen in some patients. GTPTS is caused by mutations in KAT6B, which encodes lysineread more
Tests Available
By gene: KAT6B
Next Generation Sequencing
$900
Test Code: 1799
|
Deletion / Duplication
$900
Test Code: 1800
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1801
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Test Details
Technical Information
Genes:
KAT6B
Disease Groups:
Skeletal Dysplasias
Neurological and Muscular Disorders
MIM:
606170
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1799 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.