Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations
0051506
 
Ordering Recommendation
Rule out thanatophoric dysplasia.
Mnemonic
TD PAN
Methodology
Polymerase Chain Reaction/Fragment Analysis
Performed
Sun-Sat
Reported
3-7 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
Interpretive Data
Background information for Thanatophoric Dysplasia, Types I and II (FGFR3) 13 Mutations
Characteristics:
Micromelia, macrocephaly, short ribs and a narrow thorax; TD I has bowed femurs and TD II has straight femurs and a cloverleaf skull; death usually occurs from respiratory insufficiency within hours or days of birth.
Incidence:
1 in 20,000 to 50,000 births.
Inheritance:
Autosomal dominant; arising from a de novo mutation.
Cause:
Fibroblast growth factor receptor 3 (FGFR3) gene mutations.
Mutations tested:
c.742C>T (R248C), c.746C>G (S249C), c.1108G>T (G370C), c.1111A>T (S371C), c.1118A>G (Y373C), c.2419T>G (X807G), c.2419T>A (X807R), c.2420G>T (X807L), c.2420G>C (X807S), c.2421A>T (X807C), c.2421A>C (X807C) and c.2421A>G (X807W) for TD I and c.1948A>G (K650E) for TD II.
Clinical Sensitivity and Specificity:
99 percent.
Methodology:
Polymerase chain reaction (PCR) and single nucleotide extension followed by capillary electrophoresis.
Analytic Specificity and Sensitivity
: 99 percent.
Limitations:
Mutations other than those targeted in FGFR3 will not be detected; analytic sensitivity may be compromised by rare primer site mutations. Diagnostic errors can occur due to rare sequence variations.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81479
Components
Component Test Code*Component Chart Name
0051507Thanatophoric Dysplasia I/II
2001382Thanatophoric Dysplasia I/II Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References
  • TD (Thanatophoric Dysplasia, Types 1 & 2 (FGFR3) 13 Mutations)