Familial Isolated Hypoparathyroidism (FIH)

The autosomal dominant form of Familial isolated hypoparathyroidism (FIH) is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone (PTH). Symptoms are seizures, tetany and muscle cramps.

Tests Available

Forms and Documents

Test Details

CASR
  • Distinguish FHH from primary hyperparathyroidism and other disorders of calcium homeostasis
  • Confirmation of a clinical diagnosis
  • To determine appropriate treatment, including avoidance of parathyroidectomy in FHH patients
  • Prenatal diagnosis in pregnancies at-risk for NSHPT
  • Capillary Sequencing

Ordering

170
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81405x1
No
Yes
  • 275.4 Disorders of calcium metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Pollak et al., (1993) Cell 75:1297-1303
  2. Chou et al., (1995) Am J Hum Genet 56:1075-1079
  3. Pearce et al., (1995) J Clin Invest 96:2683-2692
  4. Pearce et al., (1996) NEJM 335(15):1115-1122
  5. Hendy et al., (2000) Hum Mut 16:281-296
  6. Hendy et al.,(2003) J of Clin Endocrin & Metab 88(8):3674-3681
  7. Warner et al., (2004) J Med Genet 41(3):155-60
  8. Lienhardt et al (2001) J Clin Endocr Metab 86:5313-5323
  9. Thakker (2004) Cell Calcium 35:275-28
  10. Gunn et al (2004) Ann Clin Biochem 41:441-58
  11. Simonds et al., (2002) Medicine (Baltimore) 81:1-26