Hyperphosphatemic familial tumoral calcinosis (HFTC; MIM 211900) is an autosomal recessive metabolic disorder characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and also bone.read more
Tests Available
By gene: FGF23
Sanger Sequencing
$492
Test Code: 2363
|
Deletion / Duplication
$900
Test Code: 2364
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 2365
|
Test Details
Technical Information
Genes:
FGF23
Disease Groups:
Abnormal Mineralization Disorders
Metabolic and Endocrine Disorders
Billing
CPT Codes:
81404 x 1
Ordering
SKU:
2363 Turnaround Time:
Typically 1 to 2 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.