Short-Rib-Polydactyly Syndrome via the DYNC2H1 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
11275 DYNC2H1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11275DYNC2H181479 81479 $890 Order Options and Pricing

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Short rib-polydactyly syndrome (SRTD) is a group of skeletal ciliopathies characterized by markedly short ribs, short limbs, with or without polydactyly. Some patients may also present abnormalities involving the brain, eyes, heart, kidneys, liver, pancreas, intestines, and genitalia. SRTD includes Ellis-van Creveld syndrome, Jeune syndrome (asphyxiating thoracic dystrophy), and Mainzer-Saldino syndrome. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (Huber and Cormier-Daire 2012). The clinical features of SRTD also overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome).

Genetics

Pathogenic variants in the DYNC2H1 gene cause autosomal recessive Short-rib thoracic dysplasia 3 with or without polydactyly (also called asphyxiating thoracic dystrophy, Jeune syndrome, Saldino-Noonan syndrome, Verma-Naumoff syndrome, or Short rib-polydactyly syndrome, Majewski type). The DYNC2H1 protein is a central ATPase subunit of the IFT dynein-2 complex that is involved in the retrograde ciliary transport, an important process for cilia assembly and maintenance (Porter et al. 1999). To date, more than 80 pathogenic variants have been reported; they are missense (60%), nonsense (11%), splicing (13%), small deletion/duplication (13%), and only two reported large deletions (Dagoneau et al. 2009; Schmidts et al. 2013, Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

In one study, DYNC2H1 pathogenic variants were identified in 19 out of 57 (33%) of studied families with a clinical diagnosis of asphyxiating thoracic dystrophy (Schmidts et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the DYNC2H1 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with symptoms consistent with Short-rib thoracic dysplasia and the family members of patients who have known DYNC2H1 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DYNC2H1.

Gene

Official Gene Symbol OMIM ID
DYNC2H1 603297
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Dagoneau N. et al. 2009. American Journal of Human Genetics. 84: 706-11. PubMed ID: 19442771
  • Huber C, Cormier-Daire V. 2012. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 160C: 165-174. PubMed ID: 22791528
  • Human Gene Mutation Database (Bio-base).
  • Porter M.E. et al. 1999. Molecular Biology of the Cell. 10: 693-712. PubMed ID: 10069812
  • Schmidts M. et al. 2013. Journal of Medical Genetics. 50: 309-23. PubMed ID: 23456818

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.

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 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.

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