Brachydactyly via the CHSY1 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
9895 CHSY1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9895CHSY181479 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average


Genetic Counselors


Clinical Features and Genetics

Clinical Features

Brachydactyly, a bone dysostosis condition, is characterized by shortening of fingers and/or toes. Temtamy preaxial brachydactyly syndrome (also called preaxial brachydactyly syndrome, Temtamy type) is a congenital syndrome characterized by mental retardation, sensorineural deafness, growth retardation, and bilateral symmetric preaxial brachydactyly and hyperphalangism. Some patients may also have dental anomalies and cleft palate (Temtamy and Aglan 2008).


CHSY1-related Temtamy preaxial brachydactyly syndrome is inherited in an autosomal recessive manner. The CHSY1 protein is a secreted FRINGE enzyme that interacts with the NOTCH signal pathway (Tian et al. 2010). About 10 unique pathogenic variants have been reported: missense (4), nonsense (2) splicing (1) and small deletion (3). No large deletions/duplications have been reported (Human Gene Mutation Database; Tian et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the CHSY1 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).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to limited publications, clinical sensitivity is difficult to predict. Analytical sensitivity should be high, because all reported pathogenic variants are missense, nonsense, splicing, and small ins/del (Human Gene Mutation Database; Li et al. 2010; Tian et al. 2010).

Indications for Test

Candidates for this test are patients with symptoms consistent with Temtamy preaxial brachydactyly syndrome and the family members of patients who have known CHSY1 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CHSY1.


Official Gene Symbol OMIM ID
CHSY1 608183
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Temtamy Preaxial Brachydactyly Syndrome AR 605282


  • Human Gene Mutation Database (Bio-base).
  • Li Y. et al. 2010. American Journal of Human Genetics. 87: 757-67. PubMed ID: 21129728
  • Temtamy S.A., Aglan M.S. 2008. Orphanet Journal of Rare Diseases. 3: 15. PubMed ID: 18554391
  • Tian J. et al. 2010. American Journal of Human Genetics. 87: 768-78. PubMed ID: 21129727


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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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.

Total Price: $
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