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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 15149 | BDNF | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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.
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.
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
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
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ORDER OPTIONS
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2) Select Additional Test Options
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