Gracile bone dysplasia (GCLEB; MIM 602361) and Kenny-Caffey syndrome, type 2 (KCS2; MIM 127000) are autosomal dominant disorders caused by mutations in the FAM111A gene. They share clinical features such as short stature, thin long bones, primary hypoparathyroidism, hypocalcemia, microphthalmia, triangular face and frontal bossing. Radiographs show increased bone density with small and slender bones.read more
Tests Available
By gene: TBCE
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Next Generation Sequencing
$900
Test Code: 1903
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Deletion / Duplication
$900
Test Code: 1904
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1905
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Related Panels
Test Details
Technical Information
Genes:
TBCE
Disease Groups:
Metabolic and Endocrine Disorders
Osteopetrosis and High Bone Density Disorders
MIM:
244460
Billing
Price:
$900
CPT Codes:
81479 x 1
Ordering
SKU:
1903 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: 4 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: 4 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.