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GDF5-related Disorders via the GDF5 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
GDF5 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7673GDF581479 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.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

GDF5 (also known as CDMP1) encodes growth/differentiation factor 5, a secreted signaling molecule that participates in skeletal morphogenesis (Francis-West et al. Development 126:1305-1315, 1999). GDF5 is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation (Baldridge et al. Annu Rev Genomics Hum Genet 11:189–217, 2010).


Variants in GDF5 are known to cause at least 7 distinct skeletal disorders. Brachydactyly type A2, brachydactyly type C, and multiple synostoses syndrome 2 are inherited in an autosomal dominant manner. The Hunter-Thompson type of acromesomelic dysplasia, Grebe chondrodysplasia, and Du Pan syndrome are inherited in autosomal recessive manner. Brachydactyly type A1 and type C can be inherited in both autosomal dominant and autosomal recessive manners. The majority of variants are missense, nonsense, and frameshift variants resulting in gain-of-function, dominant-negative or haploinsufficiency (Thomas et al. Nature Genet 17:58-64, 1997; Everman et al. Am J Med Genet 112:291-296, 2002; Seemann et al. J Clin. Invest 115:2373-2381, 2005).

Clinical Sensitivity - Sequencing with CNV PG-Select

This test is predicted to detect disease variants in virtually all individuals with a clinical diagnosis of brachydactyly type C (Everman et al. Am J Med Genet 112:291-296, 2002). Testing of large series of patients with other GDF5-related phenotypes has not been reported; therefore, the test sensitivities for these disorders are currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the GDF5 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with clinical and radiographic features consistent with above phenotypes and family members of patients who have a known GDF5 variant. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in GDF5.


Official Gene Symbol OMIM ID
GDF5 601146
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene


  • Baldridge, D., et.al. (2010). "Signaling pathways in human skeletal dysplasias." Annu Rev Genomics Hum Genet 11: 189-217. PubMed ID: 20690819
  • Everman, D. B., et.al. (2002). "The mutational spectrum of brachydactyly type C." Am J Med Genet 112(3): 291-6. PubMed ID: 12357473
  • Francis-West, P. H., et.al. (1999). "Mechanisms of GDF-5 action during skeletal development." Development 126(6): 1305-15. PubMed ID: 10021348
  • Seemann, P., et.al. (2005). "Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2." J Clin Invest 115(9): 2373-81. PubMed ID: 16127465
  • Thomas, J. T., et.al. (1997). "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1." Nat Genet 17(1): 58-64. PubMed ID: 9288098


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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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

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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