Ordering Recommendation

Confirm diagnosis in at-risk fetuses or those with ultrasonographic features consistent with thanatophoric dysplasia type 1 or type 2.




Polymerase Chain Reaction/Fragment Analysis




3-7 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Cultured Amniocytes, Cultured CVS, or Amniotic fluid (direct).
Maternal Whole Blood Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Transfer cultured amniocytes or cultured CVS to two T-25 flasks at 80% confluence. (Min: one T-25 flask at 80% confluence). Backup cultures must be retained at the client's institution until testing is complete. If the client is unable to culture amniocytes or CVS, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Please contact an ARUP genetic counselor at (800) 242-2787 ext. 2141 prior to test submission.
Amniotic Fluid (direct):
10 milliliters
Maternal Whole Blood Specimen: Transport 2 mL whole blood (Min: 1mL).

Storage/Transport Temperature

Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of collection due to viability of cells.
Amniotic fluid (direct):
Ship room temperature.
Maternal Whole Blood Specimen: Room temperature.

Unacceptable Conditions

Please contact an ARUP genetic counselor at (800) 242-2787 ext. 2141 prior to sample submission. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services at (800) 522-2787.


Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Amniotic Fluid (direct):
Room temperature: 48 hours; Refrigerated: 72 hours; Frozen: Unacceptable 
Maternal Whole Blood Specimen:
Room temperature: 7 days; Refrigerated: 1 month; Frozen: Unacceptable

Reference Interval

Interpretive Data

Background information for Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal
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.
1 in 20,000 to 50,000 births.
Autosomal dominant; arising from a de novo mutation.
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.
Polymerase chain reaction (PCR) and single nucleotide extension followed by capillary electrophoresis.
Analytic Specificity and Sensitivity:
99 percent.
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.

For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes

81479; 81265 Fetal Cell Contamination (FCC)


Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
0051488 Thanatophoric Dysplasia I/II, Fetal Spec 31208-2
0051507 Thanatophoric Dysplasia I/II 75391-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Fetal Thanatophoric dysplasia fetal mutation assay
  • FGFR3 fetal mutation assay
  • TD
Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal