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
Next Generation Sequencing
$990
Test Code: 1903
Deletion / Duplication
$990
Test Code: 1904
NGS/Del Dup Comprehensive
$1,365
Test Code: 1905

Related Panels
Kenny-Caffey syndrome NGS panel (2 genes)
NGS $1,070
Del Dup $990
Comp $1,445

Test Details

Technical Information
Genes: 
TBCE
Disease Groups: 
Metabolic and Endocrine Disorders
Osteopetrosis and High Bone Density Disorders
MIM: 
244460
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1903
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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