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Short Stature with or without Partial Isolated Growth Hormone Deficiency via the GHSR 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
GHSR 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9045GHSR81479 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.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Short stature is a multifactorial developmental disorder. Short stature with or without partial isolated growth hormone deficiency (OMIM 604271) is a genetic disorder of growth failure due to defective growth hormone secretagogue receptor (GHSR) (Howard et al. Science 273:974-977, 1996; Pantel et al. J Clin Invest 116:760-768, 2006). It has been reported that a patient with recessive partial isolated growth hormone deficiency due to GHSR variants had growth delay associated with recurrent abdominal pain, vomiting, ketosis, hypoglycemia, and low body mass index (Pantel et al. J Clin Endocrinol Metab 94:4334-4341, 2009). On the other hand, a semidominant transmission with incomplete penetrance of short stature with or without partial isolated growth hormone deficiency has been reported in patients of two unrelated families from Morocco (Pantel et al. 2006).


Short stature with or without partial isolated growth hormone deficiency is caused by variants in the GHSR gene (Pantel et al. J Clin Invest 116:760-768, 2006). The GHSR gene encodes a growth hormone secretagogue receptor (GHSR), an orphan 7-transmembrane G-protein coupled receptor that acts on the pituitary gland and the hypothalamus to stimulate growth hormone release (Howard et al. Science 273:974-977, 1996; Smith et al. Endocr Rev 18:621-645, 1997). The GHSR receptor has a constitutive activity, defined as ligand-independent signaling activity, of unknown clinical significance and an endogenous ligand known as ghrelin, a hormone predominantly produced by the stomach to stimulate growth hormone secretion (Holst et al. Mol Endocrinol 17:2201-2210, 2003; Kojima et al. Nature 402:656-660, 1999; Pantel et al. 2006). A mix of missense and nonsense variants within the GHSR gene and variants in its promoter region have been reported (Wang et al. J Clin Endocrinol Metab 89:157-162, 2004; Pantel et al. 2006; Liu et al. J Pharmacol Exp Ther 322:1036-1043, 2007; Mager et al. PLoS One 3:e2941, 2008; Pantel et al. J Clin Endocrinol Metab 94:4334-4341, 2009). The missense variant c.611C>A (p.Ala204Glu), which results in a semidominant transmission with incomplete penetrance of short stature, has been demonstrated to affect the constitutive activity and the cell surface expression of the GHSR receptor but does not affect the specific binding to ghrelin (Pantel et al. 2006; Liu et al. 2007).

Clinical Sensitivity - Sequencing with CNV PGxome

Sensitivity of this test is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the GHSR 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 symptoms consistent with short stature with or without partial isolated growth hormone deficiency and family members of patients who have known GHSR variants.


Official Gene Symbol OMIM ID
GHSR 601898
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Short Stature, Idiopathic, Autosomal AD 604271


  • Holst, B., et.al. (2003). "High constitutive signaling of the ghrelin receptor--identification of a potent inverse agonist." Mol Endocrinol 17(11): 2201-10. PubMed ID: 12907757
  • Howard, A. D., et.al. (1996). "A receptor in pituitary and hypothalamus that functions in growth hormone release." Science 273(5277): 974-7. PubMed ID: 8688086
  • Kojima, M., et.al. (1999). "Ghrelin is a growth-hormone-releasing acylated peptide from stomach." Nature 402(6762): 656-60. PubMed ID: 10604470
  • Liu, G., et.al. (2007). "Four missense mutations in the ghrelin receptor result in distinct pharmacological abnormalities." J Pharmacol Exp Ther 322(3): 1036-43. PubMed ID: 17596538
  • Mager, U., et.al. (2008). "Variations in the ghrelin receptor gene associate with obesity and glucose metabolism in individuals with impaired glucose tolerance." PLoS One 3(8): e2941. PubMed ID: 18698404
  • Pantel, J., et.al. (2006). "Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature." J Clin Invest 116(3): 760-8. PubMed ID: 16511605
  • Pantel, J., et.al. (2009). "Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor." J Clin Endocrinol Metab 94(11): 4334-41. PubMed ID: 19789204
  • Smith, R. G., et.al. (1997). "Peptidomimetic regulation of growth hormone secretion." Endocr Rev 18(5): 621-45. PubMed ID: 9331545
  • Wang, H. J., et.al. (2004). "Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature." J Clin Endocrinol Metab 89(1): 157-62. PubMed ID: 14715843


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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View Ordering Instructions

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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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