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LHCGR-related Disorders via the LHCGR Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7729 LHCGR 81406 81406,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7729LHCGR81406 81406,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Turnaround Time

18 days on average for standard orders or 13 days 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

  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

The LHCGR gene encodes the receptor for both luteinizing hormone (LH) and choriogonadotropin (CG). Activating LHCGR pathogenic variants cause familial male precocious puberty while inactivating LHCGR pathogenic variants cause Leydig cell hypoplasia (LCH) in both males and females.

Familial male precocious puberty is a gonadotropin-independent disorder. Affected males generally exhibit signs of puberty by 4 years old (Shenker et al. 1993). This disease is inherited in an autosomal dominant manner, but is limited to males.

Leydig cell hypoplasia in 46, XY males has been classified into two types. Type I is characterized by complete 46,XY male pseudohermaphroditism, absent development of secondary male sex characteristics, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, and lack of breast development due to complete inactivation of LHCGR. Type II presents a wide phenotypic range from micropenis to severe hypospadias due to partial inactivation of LHCGR (Themmen and Huhtaniemi 2000).

Leydig cell hypoplasia in 46, XX females leads to milder features characterized by amenorrhea, defective follicular development and ovulation, and infertility (Themmen and Huhtaniemi 2000).

Genetics

Familial male precocious puberty is an autosomal dominant disorder caused by activating pathogenic variants in the LHCGR gene (Shenker et al. 1993) while Leydig cell hypoplasia in both males and females is an autosomal recessive disorder caused by inactivating pathogenic variants in the LHCGR gene (Kremer et al. 1995; Latronico et al. 1996).

The LHCGR gene has 11 coding exons that encode the receptor for both luteinizing hormone and choriogonadotropin, which belongs to the G-protein coupled receptor family. While only missense LHCGR (activating) pathogenic variants have been found in familial male precocious puberty, genetic defects of LHCGR found to date in the spectrum of Leydig cell hypoplasia include missense, nonsense, splicing, small deletions and large deletions (Human Gene Mutation Database). A mutation hot spot has been found in exon 11, which contains the common mutation p.Asp578Gly (Laue et al. 1995).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a study of 32 unrelated families affected by familial male precocious puberty, all families were found through sequencing to have a LHCGR pathogenic variant (Laue et al. 1995), which indicated a high clinical sensitivity in sequencing for this disease. Detection rate of pathogenic variants in the LHCGR gene in a large cohort of patients with Leydig cell hypoplasia is unknown in the literature because only a limited number of cases have been reported.

Testing Strategy

This test provides full coverage of all coding exons of the LHCGR gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with familial male precocious puberty or Leydig cell hypoplasia. Testing is also indicated for family members of patients who have known pathogenic variants in the LHCGR gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LHCGR.

Gene

Official Gene Symbol OMIM ID
LHCGR 152790
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Human Gene Mutation Database (Bio-base).
  • Kremer H. et al. 1995. Nature Genetics. 9: 160-4. PubMed ID: 7719343
  • Latronico AC. et al. 1996. The New England Journal of Medicine. 334: 507-12. PubMed ID: 8559204
  • Laue L. et al. 1995. Proceedings of the National Academy of Sciences of the United States of America. 92: 1906-10. PubMed ID: 7892197
  • Shenker A. et al. 1993. Nature. 365: 652-4. PubMed ID: 7692306
  • Themmen APN., Huhtaniemi IT. 2000. Endocrine Reviews. 21: 551-83. PubMed ID: 11041448

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

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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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