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Klippel-Feil Syndrome via the GDF6 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
GDF6 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3909GDF681479 81479,81479 $990 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

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

For Sanger Sequencing click here.

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.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Patients with Klippel-Feil syndrome (OMIM 118100) share the defining characteristic of fused cervical vertebrae. Klippel-Feil may be a heterogeneous collection of disorders rather than a single disease entity (Tracy et al. Clin Orthopedics Related Res 424:183-190, 2004). Common clinical features include a short neck, low posterior hairline, restricted range of head movement, and scoliosis. Less common clinical features include rib abnormalities, kidney and heart malformations, deafness, ocular anomalies, and respiratory problems (Sullivan, http://www.emedicine.com/orthoped/TOPIC408.htm). In one series of patients, the average age at onset of symptoms was 12 years (Samartzis et al. Spine 31:E798-E804, 2006).


Although autosomal recessive inheritance of Klippel-Feil has been reported (Tracy et al. 2004), families which appear to exhibit autosomal dominant inheritance with reduced penetrance have also been reported (Tassabehji et al. Hum Mut 29:1017-1027, 2008; Asai-Coakwell et al. Hum Mol Genet 18:1110-1121,2009). GDF6 encodes growth differentiation factor 6, a member of the bone morphogenetic protein family. Eight causative point variants have been reported to date in this gene; all have been missense. A patient with chorioretinal coloboma was shown to have a deletion encompassing the GDF6 gene (Asai-Coakwell et al. Am J Hum Genet 80:306-315, 2007).

Clinical Sensitivity - Sequencing with CNV PGxome

Tassabehji et al. reported detecting point variants within the gene in 1 of 6 dominant families and 2 of 121 sporadic cases. Asai-Coakwell et al. (2009) reported detecting GDF6 variants in 1% of 489 patients with ocular anomalies (microphthalmia, coloboma, and anophthalmia) and in 4% of 81 patients with vertebral segmentation disorders.

Testing Strategy

This test provides full coverage of all coding exons of the GDF6 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients who have clinical features consistent with Klippel-Feil syndrome are candidates for this test. Asai-Coakwell et al. (2009) reported that some patients with GDF6 variants had microphthalmia in the absence of skeletal abnormalities.


Official Gene Symbol OMIM ID
GDF6 601147
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Klippel-Feil Syndrome 1, Autosomal Dominant 118100

Related Test

Klippel-Feil Syndrome via the MEOX1 Gene


  • Asai-Coakwell M. et al. 2009. Human Molecular Genetics. 18: 1110-21. PubMed ID: 19129173
  • Asai-Coakwell, M., et.al. (2007). "GDF6, a novel locus for a spectrum of ocular developmental anomalies." Am J Hum Genet 80(2): 306-15. PubMed ID: 17236135
  • Samartzis, D.D. et.al. (2006). "Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms." Spine 31(21): E798-804. PubMed ID: 17023841
  • Tassabehji, M., et.al. (2008). "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome." Hum Mutat 29(8): 1017-27. PubMed ID: 18425797
  • Tracy, M. R. et.al. (2004). "Klippel-Feil syndrome: clinical features and current understanding of etiology." Clin Orthop Relat Res (424): 183-90. PubMed ID: 15241163


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

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2) Select Additional Test Options

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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