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Hypoparathyroidism Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AIRE 81406,81479
AP2S1 81479,81479
CASR 81405,81479
FAM111A 81479,81479
GATA3 81479,81479
GCM2 81479,81479
GNA11 81479,81479
GNAS 81479,81479
HADHA 81406,81479
HADHB 81406,81479
PTH 81479,81479
PTH1R 81479,81479
SOX3 81479,81479
STX16 81479,81479
TBCE 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2653Genes x (15)81479 81405(x1), 81406(x3), 81479(x26) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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).

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.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Hypoparathyroidism is an abnormality of calcium metabolism 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; Al-Azem et al. 2012; Kim et al. 2015). Hypoparathyroidism can be inherited (commonly seen in children) or acquired (usually in adults). Clinical manifestations of pediatric hypoparathyroidism include bronchospasm, laryngospasm, tetany and seizures in the neonatal period; and confusion, fatigue, muscle cramping, paraesthesia, twitching and arrhythmia in older children. Congenital hypoparathyroidism caused by genetic aberration can be syndromic or isolated.


Isolated hypoparathyroidism can be inherited in autosomal dominant (AP2S1, CASR, GNA11, PTH and GCM2), autosomal recessive (PTH and GCM2) or X-linked manner (SOX3) (Kim et al. 2015; De Sanctis et al. 2012; Mannstadt et al. 2013). Syndromic hypoparathyroidism is commonly seen in chromosome 22q11.2 microdeletion syndrome, but can be also caused by defects in single genes such as AIRE (polyglandular autoimmune syndrome, autosomal recessive), TBCE (hypoparathyroidism-retardation-dysmorphism syndrome, autosomal recessive), FAM111A (Kenny-Caffey syndrome, autosomal dominant), GATA3 (hypoparathyroidism-deafness-renal dysplasia syndrome, autosomal dominant), PTH1R (Blomstrand chondrodysplasia, autosomal recessive), GNAS and STX16 (pseudohypoparathyroidism, autosomal dominant) or HADHA and HADHB (trifunctional protein deficiency, autosomal recessive). Mitochondrial genome defects have been also associated with syndromic hypoparathyroidism such as Kearns-Sayre syndrome. The mutation spectrum throughout these genes includes all types of variants.

See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

In a cohort study of 37 pediatric hypoparathyroidism patients in Korea (Kim et al. 2015), 22 cases (59.5%) had 22q11.2 microdeletion syndrome. Other genetic defects were found in GATA3 (5/37, 13.5%), AIRE (1, 2.7%), FAM111A (1, 2.7%) and mitochondrial genome (1, 2.7%). The remaining 7 (18.9%) patients were classified as idiopathic hypoparathyroidism cases.

The cause of nonsurgical isolated hypoparathyroidism remains unknown in about 90% of sporadic cases and 30% of familial cases (Lambert et al. 2014).

No large deletions or duplications have been reported yet in these genes: FAM111A, AP2S1, GNA11, PTH, PTH1R, and TBCE. Deletions or duplications have been reported in these genes, but are uncommon: AIRE, CASR, GATA3, GCM2, HADHA, HADHB, and STX16. Deletions or duplications have been commonly reported in SOX3 and GNAS.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 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 hypoparathyroidism. This test especially aids in a differential diagnosis of similar phenotypes by analyzing multiple genes simultaneously.


Official Gene Symbol OMIM ID
AIRE 607358
AP2S1 602242
CASR 601199
FAM111A 615292
GATA3 131320
GCM2 603716
GNA11 139313
GNAS 139320
HADHA 600890
HADHB 143450
PTH 168450
PTH1R 168468
SOX3 313430
STX16 603666
TBCE 604934
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Al-Azem H., Khan A.A. 2012. Best Practice & Research. Clinical Endocrinology & Metabolism. 26: 517-22. PubMed ID: 22863393
  • De Sanctis V. et al. 2012. Current Opinion in Endocrinology, Diabetes, and Obesity. 19: 435-42. PubMed ID: 23128574
  • Garfield N., Karaplis A.C. 2001. Trends in Endocrinology and Metabolism: Tem. 12: 288-94. PubMed ID: 11504667
  • Kim J.H. et al. 2015. Clinical Endocrinology. 83: 790-6. PubMed ID: 26384470
  • Lambert A.S. et al. 2014. The Journal of Clinical Endocrinology and Metabolism. 99: E469-73. PubMed ID: 24423332
  • Mannstadt M. et al. 2013. The New England Journal of Medicine. 368: 2532-4. PubMed ID: 23802536


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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2) Select Additional Test Options

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