Familial Isolated Hypoparathyroidism via the PTH Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesPrice Test CPT CodeGene CPT Codes Copy CPT Codes
9229 PTH$890 8147981479,81479 Add to Order

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average


Genetic Counselors


Clinical Features and Genetics

Clinical Features

Familial isolated hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia due to inadequate (absent or markedly reduced) secretion of parathyroid hormone (Garfield et al. 2001; De Sanctis et al. 2012).


PTH-associated isolated hypoparathyroidism can be inherited in both autosomal dominant (dominant-negative effect) and recessive (inactivating effect) manners (Arnold et al. 1990; Sunthornthepvarakul et al. 1999). PTH has two coding exons that encode the parathyroid hormone. Genetic defects documented to date in PTH only include missense, nonsense and splicing mutations (Human Gene Mutation Database).

The three other causative genes for familial isolated hypoparathyroidism are CASR, GCM2 and SOX3 (De Sanctis et al. 2012).

Testing Strategy

This test provides full coverage of all coding exons of the PTH gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV

The detection rate of pathogenic variants in the PTH gene in a large cohort of patients with familial isolated hypoparathyroidism is unknown because documented PTH pathogenic variants have been reported only in limited cases.

Indications for Test

Candidates for this test are patients with familial isolated hypoparathyroidism. Testing is also indicated for family members of patients who have known PTH mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PTH.


Official Gene Symbol OMIM ID
PTH 168450
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hypoparathyroidism, Familial Isolated AD, AR 146200


  • Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM. 1990. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J. Clin. Invest. 86: 1084–1087. PubMed ID: 2212001
  • De Sanctis V, Soliman A, Fiscina B. 2012. Hypoparathyroidism: from diagnosis to treatment. Curr Opin Endocrinol Diabetes Obes 19: 435–442. PubMed ID: 23128574
  • Garfield N, Karaplis AC. 2001. Genetics and animal models of hypoparathyroidism. Trends Endocrinol. Metab. 12: 288–294. PubMed ID: 11504667
  • Human Gene Mutation Database (Bio-base).
  • Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S. 1999. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J. Clin. Endocrinol. Metab. 84: 3792–3796. PubMed ID: 10523031


Ordering Options

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

Specimen Types

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