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 more

Tests Available

By gene: FAM111A
Next Generation Sequencing
Test Code: 1808
Deletion / Duplication
Test Code: 1809
NGS/Del Dup Comprehensive
Test Code: 1810

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Test Details

Technical Information
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
Metabolic and Endocrine Disorders
CPT Codes: 
81479 x 1
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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