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Hypochondroplasia via the FGFR3 Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
428 FGFR3 81404 81404 $560 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
428FGFR381404 81404 $560 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

Hypochondroplasia (OMIM#146000) is a relatively common skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly (Francomano. GeneReviews 2005). The skeletal features are very similar to achondroplasia but usually tend to be milder. Children usually present as toddlers or school-age children with failure to grow. Limb disproportion and other features become more prominent as age increases.

Genetics

Hypochondroplasia is inherited in an autosomal dominant manner. The majority of new cases result from a de novo variant. FGFR3 is the only gene known to be associated with hypochondroplasia; however, genetic heterogeneity is suspected. Two recurrent FGFR3 variants (c.1620C>A and c.1620C>G) resulting in p.Asn540Lys in exon 13 that encodes the ATP-binding segment of the tyrosine kinase domain have been shown to be common causes of hypochondroplasia (Bellus et al. Nat Genet 10:357–359, 1995; Prinos et al. Hum Mol Genet 4:2097–2101, 1995). Sequence analysis of FGFR3 exons 7, 9, 10, 13, and 15 detects other rare FGFR3 variants associated with hypochondroplasia. 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).

Clinical Sensitivity - Sanger Sequencing

This test is predicted to detect disease variants in >70% of affected individuals (Prinos et al. Hum Mol Genet 4:2097–2101, 1995; Prinster et al. Am J Med Genet 75:109–112, 1998; Ramaswami et al. J Pediatr 133:99–102, 1998; Grigelioniene et al. Hum Mut 11:333, 1998; Bellus et al. Am J Hum Genet 67:1411–1421, 2000; Thauvin-Robinet et al. Am J Med Genet A 119:81–84, 2003).

Testing Strategy

This test involves bidirectional sequencing using genomic DNA of 5 selected coding exons (exon 7, 9, 10, 13, 15) of the FGFR3 gene plus ~10 bp of flanking non-coding DNA on each side. 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 are patients with clinical features consistent with hypochondroplasia and family members of patients who have a known FGFR3 variant.

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
Hypochondroplasia 146000

Related Tests

Name
FGFR3-Related Disorders via the FGFR3 Gene
Achondroplasia via the FGFR3 Gene, Exon 10
Craniofrontonasal Syndrome via the EFNB1 Gene
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via the IL11RA Gene
Craniosynostosis via the MSX2 Gene
Frontonasal Dysplasia (Frontorhiny) via the ALX3 Gene
Thanatophoric Dysplasia (TD) via the FGFR3 Gene

Citations

  • Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. 1995. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat. Genet. 10: 357–359. PubMed ID: 7670477
  • Bellus, G. A., et.al. (2000). "Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype." Am J Hum Genet 67(6): 1411-21. PubMed ID: 11055896
  • Francomano, Clair A MD, FACMG (2005). "Hypochondroplasia."
  • Green, P. J., et.al. (1996). "Promiscuity of fibroblast growth factor receptors." Bioessays 18(8): 639-46. PubMed ID: 8760337
  • Grigelioniene, G., et.al. (1998). "A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online." Hum Mutat 11(4): 333. PubMed ID: 10215410
  • Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P. 1995. A common FGFR3 gene mutation in hypochondroplasia. Human molecular genetics 4: 2097–2101. PubMed ID: 8589686
  • Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P. 1995. A common FGFR3 gene mutation in hypochondroplasia. Human molecular genetics 4: 2097–2101. PubMed ID: 8589686
  • Prinster, C., et.al. (1998). "Comparison of clinical-radiological and molecular findings in hypochondroplasia." Am J Med Genet 75(1): 109-12. PubMed ID: 9450868
  • Ramaswami, U., et.al. (1998). "Genotype and phenotype in hypochondroplasia." J Pediatr 133(1): 99-102. PubMed ID: 9672519
  • Thauvin-Robinet, C., et.al. (2003). "Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene." Am J Med Genet A 119A(1): 81-4. PubMed ID: 12707965

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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