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Congenital Central Hypoventilation Syndrome (CCHS) via the BDNF 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
15149 BDNF 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15149BDNF81479 81479,81479 $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

  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder that affects breathing (alveolar hypoventilation) and autonomic regulation. It often occurs in newborns, and less frequently as a milder condition in young children and adults. Individuals affected with CCHS require assistance for breathing via a ventilator 24 hours a day or only during sleep. Tracheostomy along with assisted ventilation is especially recommended for young children (Weese-Mayer et al. 2014). Some individuals with CCHS also have associated Hirschsprung disease and/or neuroblastomas in up to 20% and 6% of cases, respectively. CCHS is also known as Ondine's curse and Haddad syndrome; the latter refers to the co-occurrence of CCHS and Hirschsprung disease (Lai and Schroer 2008), but these terms are not commonly used. The prevalence of CCHS is estimated at 1,000 individuals worldwide, but this may be an underestimate because individuals with a milder phenotype are underdiagnosed (Weese-Mayer et al. 2010).

Genetics

Congenital Central Hypoventilation Syndrome is inherited in an autosomal dominant manner and is usually caused by PHOX2B pathogenic variants. BDNF has also been associated with CCHS and HSCR, although its role is not totally clear. BDNF encodes a brain-derived neurotrophic factor, which is a neurotrophic factor made during embryogenesis that is involved in the maturation and differentiation of respiratory neurons (Chiaretti et al. 2005). Disturbances in baseline respiratory frequency have been observed in bdnf knockout mice (Gaultier et al. 2004). To date, only one suspected pathogenic variant found in an individual with CCHS has been reported, however the variant was also found in the proband's parent who did not exhibit CCHS, but did have autonomic nervous system dysfunction (Weese-Mayer et al. 2002).

Clinical Sensitivity - Sequencing with CNV PG-Select

The clinical sensitivity for BDNF in CCHS is currently unknown due to the limited number of studies.

Testing Strategy

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

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

Indications for Test

Individuals who are clinically suspected or diagnosed with CCHS.

Gene

Official Gene Symbol OMIM ID
BDNF 113505
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Congenital Central Hypoventilation syndrome AD 209880

Citations

  • Chiaretti A. et al. 2005. Pediatric neurology. 33: 331-6. PubMed ID: 16243220
  • Gaultier C. et al. 2004. Pediatric research. 55: 729-33. PubMed ID: 14739359
  • Lai D., Schroer B. 2008. Journal of child neurology. 23: 341-3. PubMed ID: 18230845
  • Weese-Mayer DE. et al. 2002. American journal of medical genetics. 107: 306-10. PubMed ID: 11840487
  • Weese-Mayer DE. et al. 2010. American journal of respiratory and critical care medicine. 181: 626-44. PubMed ID: 20208042
  • Weese-Mayer DE. et al. 2014. Congenital Central Hypoventilation Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301600

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.
Total Price: $
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