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Achondroplasia via the FGFR3 Gene, Exon 10

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
425 FGFR3 81403 81403 $250 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
425FGFR381403 81403 $250 Order Options and Pricing

Pricing Comments

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.

Turnaround Time

12 days on average for standard orders or 8 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Achondroplasia (OMIM#100800) is the most common form of inherited disproportionate short stature. It occurs in 1 in 15,000 to 1 in 40,000 live births. Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia (Francomano. GeneReviews. 2006). This condition can be diagnosed by characteristic clinical and radiographic findings in most affected individuals.

Genetics

Achondroplasia is inherited in an autosomal dominant manner with complete penetrance. Over 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as the result of a de novo variant. More than 99% of individuals with achondroplasia have one of two variants in exon 10 of the FGFR3 gene. In about 98% of individuals, the variant is c.1138G>A, and in about 1% of individuals, the variant is c.1138G>C, both resulting in a p.Gly380Arg substitution in the FGFR3 protein (Shiang et al. Cell 78:335–342, 1994; Bellus et al. Am J Hum Genet 56:368–373, 1995). One other amino acid substitution (p.Gly375Cys) encoded within FGFR3 exon 10 has also been reported to cause this condition (Ikegawa et al. Hum Genet 96:309-311, 1995).  The FGFR3 gene encodes fibroblast growth factor receptor-3, a member of the FGFR family. Like all of the FGFRs, FGFR3 is a membrane-spanning tyrosine kinase receptor with an extracellular ligand-binding domain consisting of three immunoglobulin subdomains, a transmembrane domain, and a split intracellular tyrosine kinase domain (Green et al. Bioessays 18:639–646. 1996). The p.Gly380Arg variant, located in the transmembrane domain, has been shown to result in constitutive activation of the FGF receptor (Deng et al. Cell 84:911–921, 1996).

Clinical Sensitivity - Sanger Sequencing

This test is predicted to detect disease variants in >99% of affected individuals (Shiang et al. 1994, Bellus et al. 1995).

Testing Strategy

This test involves bidirectional sequencing of the target coding exon (exon 10) of the FGFR3 gene using genomic DNA. The full coding region of the selected exon plus ~10 bp of flanking non-coding DNA on each side are sequenced. We will also sequence any single exon (Test #100) in family members of patients with a known variant or to confirm research results.

Indications for Test

Candidates for this test include patients with clinical and radiographic features consistent with achondroplasia, those with abnormal prenatal ultrasound results showing short fetal limbs and raising the possibility of achondroplasia, and individuals who may be too young to diagnose with certainty or individuals with atypical findings.

Gene

Official Gene Symbol OMIM ID
FGFR3 134934
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Achondroplasia AD 100800

Related Tests

Name
FGFR3-Related Disorders via the FGFR3 Gene
Hypochondroplasia via the FGFR3 Gene
Thanatophoric Dysplasia (TD) via the FGFR3 Gene

Citations

  • Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. 1995. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet. 56: 368-373. PubMed ID: 7847369
  • Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P. 1996. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84: 911-921. PubMed ID: 8601314
  • Francomano, Clair A (2006). "Achondroplasia."
  • Green, P. J., et.al. (1996). "Promiscuity of fibroblast growth factor receptors." Bioessays 18(8): 639-46. PubMed ID: 8760337
  • Ikegawa, S., et.al. (1995). "Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients." Hum Genet 96(3): 309-11. PubMed ID: 7649548
  • Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. 1994. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 335–342. PubMed ID: 7913883

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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