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HESX1-Related Disorders via the HESX1 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
HESX1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8873HESX181479 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


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

The HESX1 gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Genetic defects in this gene have been associated with a wide spectrum of diseases including septooptic dysplasia (Webb et al. 2010; Dattani et al. 1998), combined pituitary hormone deficiency (Carvalho et al. 2003), and isolated growth hormone deficiency (Vivenza et al. 2011; McNay et al. 2007).

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder of early brain development with three characteristic features: hypoplasia of the optic nerves, midline abnormalities of the brain, and pituitary hypoplasia. Signs and symptoms vary significantly. Only about 30% of patients diagnosed with septooptic dysplasia have all three major features; most affected individuals have two of the major features.

HESX1 defects can cause combined pituitary hormone deficiency (CPHD) without associated hypoplasia of the optic nerves or midline abnormalities of the brain. CPHD is a multi-system developmental condition due to a deficiency of hormones produced by the pituitary gland. A failure to grow at the expected rate and short stature usually start to appear in early childhood. Other features include hypothyroidism, delayed or absent puberty, and infertility. Rarer features include deficiency of the hormone cortisol, intellectual disability, and hypoplasia of optic nerves.


HESX1-related disorders can be inherited in both autosomal dominant and recessive modes. The mutation type has not been well correlated with the mode of disease inheritance (Webb et al. 2010). Incomplete penetrance may occur in patients with heterozygous HESX1 pathogenic variants (Thomas et al. 2001). HESX1 pathogenic variants are an uncommon cause of septooptic dysplasia and hypopituitarism, accounting for less than 1% of cases (McNay et al. 2007).

Genetic defects of HESX1 found to date include missense, nonsense, splicing mutations, and small indels (Human Gene Mutation Database). No large deletions and duplications have been reported. The HESX1 gene (4 coding exons) encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland.

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 228 patients with a broad spectrum of congenital pituitary defects, ranging in severity from isolated growth hormone deficiency to SOD with panhypopituitarism, only three heterozygous missense HESX1 pathogenic variants (1.3%) were found (Thomas et al. 2001).

In a study of nonfamilial patients (724) with either SOD (n = 314) or isolated pituitary dysfunction, optic nerve hypoplasia, or midline neurological abnormalities (n = 410), and 126 patients with familial hypopituitarism from 66 unrelated families and in 11 patients born to consanguineous parents, the overall incidence of coding region HESX1 pathogenic variants was less than 1% (McNay et al. 2007).

Testing Strategy

This test provides full coverage of all coding exons of the HESX1 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 affected by the spectrum of diseases including isolated growth hormone deficiency, combined pituitary hormone deficiency, and septooptic dysplasia. Testing is also indicated for family members of patients who have known mutations in the HESX1 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HESX1.


Official Gene Symbol OMIM ID
HESX1 601802
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Septooptic Dysplasia AR, AD 182230

Related Tests

Combined Pituitary Hormone Deficiency (CPHD) Panel
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel


  • Carvalho L.R. et al. 2003. The Journal of Clinical Investigation. 112: 1192-201. PubMed ID: 14561704
  • Dattani M.T. et al. 1998. Nature Genetics. 19: 125-33.  PubMed ID: 9620767
  • Human Gene Mutation Database (Bio-base).
  • McNay D.E. et al. 2007. The Journal of Clinical Endocrinology and Metabolism. 92: 691-7.  PubMed ID: 17148560
  • Thomas P.Q. et al. 2001. Human Molecular Genetics. 10: 39-45.  PubMed ID: 11136712
  • Vivenza D. et al. 2011. European Journal of Endocrinology / European Federation of Endocrine Societies. 164: 705-13. PubMed ID: 21325470
  • Webb E.A., Dattani M.T. 2010. European Journal of Human Genetics : Ejhg. 18: 393-7.  PubMed ID: 19623216


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

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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