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Familial Isolated Hypoparathyroidism via the PTH Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9229 PTH 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9229PTH81479 81479,81479 $990 Order Options and Pricing

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.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

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

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Greg Fischer, PhD

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).

Genetics

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).

Clinical Sensitivity - Sequencing with CNV PGxome

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.

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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

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.

Gene

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

Disease

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

Citations

  • 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: 10841087. PubMed ID: 2212001
  • De Sanctis V, Soliman A, Fiscina B. 2012. Hypoparathyroidism: from diagnosis to treatment. Curr Opin Endocrinol Diabetes Obes 19: 435442. PubMed ID: 23128574
  • Garfield N, Karaplis AC. 2001. Genetics and animal models of hypoparathyroidism. Trends Endocrinol. Metab. 12: 288294. 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: 37923796. PubMed ID: 10523031

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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