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Combined Pituitary Hormone Deficiency (CPHD) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
GLI2 81479,81479
HESX1 81479,81479
LHX3 81479,81479
LHX4 81479,81479
OTX2 81479,81479
POU1F1 81405,81479
PROP1 81404,81479
SOX2 81479,81479
SOX3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5287Genes x (9)81479 81404(x1), 81405(x1), 81479(x16) $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


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Combined pituitary hormone deficiency (CPHD) is a condition characterized by impaired production of growth hormone and at least one of the other 5 hormones produced by the anterior pituitary. The prevalence of CPHD is estimated to be 1 in 8,000 individuals, and approximately 5-30% of cases are familial (Baş et al. 2015. PubMed ID: 25500790). Most affected individuals are ascertained because of a failure to grow and short stature starting in infancy or early childhood. Patients with CPHD are associated with deficiencies of growth hormone (GH), thyroid-stimulating hormone (TSH), gonadotropins (luteinizing hormone (LH) and follicle-stimulating hormone (FSH)), and occasionally adrenocorticotropic hormone (ACTH) (Otto et al. 2015. PubMed ID: 25315032). People with CPHD may have mild hypothyroidism which could cause poor weight gain and fatigue. Other features of CPHD include absent or delayed puberty and incomplete secondary sexual development with infertility, or more complex disorders such as septo-optic dysplasia (SOD) and holoprosencephaly (Giordano 2016. PubMed ID: 27974184; Fang et al. 2016. PubMed ID: 27828722).


CPHD is caused by both genetic and nonheritable factors such as trauma, tumor, and infections. Approximately 50-60% of familial CPHD has a genetic basis and pathogenic variants in a number of different genes are found to cause genetically determined CPHD (De Rienzo et al. 2015. PubMed ID: 26147833). GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, and SOX3 are the most studied ones (Fang et al. 2016. PubMed ID: 27828722). Of these, PROP1 pathogenic variants are the most common known cause of this disorder, accounting for approximately 50% of familiar cases, although the incidence in sporadic cases is much lower (de Graaff 2014 PubMed ID: 20301521). These genes all encode transcription factors that are expressed in the developing head, hypothalamus, and/or pituitary, and have been involved in the proper development of the pituitary gland and the specialization of its cell types (Fang et al. 2016. PubMed ID: 27828722). Pathogenic variants in these genes perturb ontogenesis of pituitary gonadotropes, somatotropes, lactotropes, and thyrotropes. These developmental defects result in deficiencies of LH, which is needed for normal growth; FSH and GH, which both play a role in sexual development and fertility; TSH, which helps with thyroid gland function; and ACTH, which influences energy production in the body and maintains normal blood sugar and blood pressure levels. CPHD can be inherited in X-linked (SOX3), autosomal dominant (GLI2, LHX4, HESX1, POU1F1, OTX2, SOX2), or autosomal recessive (HESX1, POU1F1, PROP1, LHX3) manner. See individual gene test descriptions for more information on molecular biology of gene products and mutation spectra.

Clinical Sensitivity - Sequencing with CNV PGxome

This multi-gene panel analyzes 9 most common genes associated with combined pituitary hormone deficiency (CPHD). This test is predicted to detect pathogenic variants in PROP1, POU1F1, LHX4, LHX3 and HESX1 in ~ 63% of familial CPHD and ~11% of sporadic CPHD (De Rienzo et al. 2015. PubMed ID: 26147833). Clinical sensitivity for this NGS test is estimated to be 16-31% overall (Baş et al. 2015. PubMed ID: 25500790; Fang et al. 2016. PubMed ID: 27828722).

Complete deletion of PROP1 has been frequently reported in patients with CPHD, with ~35% familial cases and ~5% sporadic cases (Baş et al. 2015. PubMed ID: 25500790; Fang et al. 2016. PubMed ID: 27828722). Deletions or duplications of the other genes in this panel have also been identified in CPHD patients (Human Gene Mutation Database).

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 GH deficiency and at least one other pituitary hormone deficiency.


Official Gene Symbol OMIM ID
GLI2 165230
HESX1 601802
LHX3 600577
LHX4 602146
OTX2 600037
POU1F1 173110
PROP1 601538
SOX2 184429
SOX3 313430
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Ba? et al. 2015. PubMed ID: 25500790
  • de Graaff 2014 PubMed ID: 20301521
  • De Rienzo et al. 2015. PubMed ID: 26147833
  • Fang et al. 2016. PubMed ID: 27828722
  • Giordano 2016. PubMed ID: 27974184
  • Human Gene Mutation Database (Bio-base).
  • Otto et al. 2015. PubMed ID: 25315032


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

1) Select Test Method (Platform)

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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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