Fibroblast Growth Factor Receptor 3 (FGFR3)-related Skeletal Dysplasias

Disorders Thanatophoric dysplasia, Types I and II
Non-syndromic craniosynostosis (NSC), also Muenke syndrome
Gene Name   FGFR3
Clinical info Thanatophoric dysplasia, types I and II both display micromelia, short ribs, small thorax and are usually lethal. Type I will display bowed femurs while type II will display straight femurs and a clover-leaf skull.

Achondroplasia patients will have short stature with disproportionately short limbs, frontal bossing and midface hypoplasia

Hypochondroplasia also causes short stature with disproportionately short limbs, short hands and feet and macrocephaly. It is similar in phenotype to achondroplasia, though milder.
Special Instructions FGFR3 testing is not offered as a panel. You must specify which condition is clinically suspected. Testing for each condition must be ordered individually and will be billed separately. If you request more than one test, please specify the order in which they should be run or if they should be run simultaneously.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for prenatal diagnosis.
Detection FGFR3 mutations will be identified in 99% of patients with thanatophoric dysplasia, types I and II, as well as achondroplasia. Approximately 70% of individuals with hypochondroplasia will have an identified FGFR3 mutation.
Associated Tests The FGFR3 gene is also included in the Next Generation Sequencing Skeletal Dysplasia Panel.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 2 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known.  Prenatal diagnosis can also be requested when there are ultrasound findings suggestive of an FGFR3-related disorder. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Thanatophoric dysplasia, Type I: 81404
Thanatophoric dysplasia, Type II: 81403
Achondroplasia: 81403
Hypochondroplasia: 81403
Non-syndromic craniosynostosis: 81403

FGFR3 deletion/duplication analysis: 81229
Cost Thanatophoric dysplasia, Type I: $500
Thanatophoric dysplasia, Type II: $300
Achondroplasia: $300
Hypochondroplasia: $300
Non-syndromic craniosynostosis:  $300

$700 for deletion/duplication analysis

Prenatal diagnosis is $1000 for each individual condition with the exception of Thanatophoric Dysplasia Types I and II which will be offered together at this cost. Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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