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Test Code HCH DNA FGFR3 DNA for Hypochondroplasia

Important Note

Test if for hypochondroplasia ONLY. If "FGFR2" is ordered, physician MUST specify if they want achondroplasia, hypochondroplasia, or Muenke Syndrome.

Clinical System Name

Hypochondroplasia DNA Evaluation

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA Tube

Preferred Vol: 5.0 mL

Minimum Vol: 1.0 mL


Note:  Transport to laboratory immediately. Ideally samples should be drawn for same day shipment, however, if shipment is delayed samples may be refrigerated.

Processing Instructions

Reject due to: Serum, Frozen samples, Hemolyzed samples or Clotted samples

Spin: N

Aliquot: N

Temp: 2-6 C

Storage location:Process sample immediately.  Do not spin. Affix large Cerner labels to tubes and place in refrigerator send-outs rack.  Samples may be refrigerated if shipment is delayed. Store extra labels in the clean plastic box attached to CPS refrigerator.  Alert Send-outs team.



Off-site collection:


Specimen Type Temperature Time
Whole Blood Room temp <7 days
  Refrigerated 2 wks
  Frozen N



STAT Performed TAT
N   2 - 4  wks


Performing Laboratory

St Francis Center for Genetic Testing


St Francis Center for Genetic Testing

6161 S Yale Ave

Tulsa, OK 74136

(866) 846 - 0315


Reference Range

Interpretive report provided.


Method: Polymerase chain reaction (PCR) and DNA Sequencing of the region of encompassing the most common mutations, including N540K (c. 1620>A/G).

Analytical Volume:


CPT Codes

81401, 81403

Clinical Utility

HCH is a form of dwarfism resulting in short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. The skeletal features are very similar to achondroplasia (ACH) but usually milder. Children usually present as toddlers with failure to grow. Limb disproportion and other features become more prominent with age.

Send Out Instructions


Reference Test Name: Hypochondroplasia (FGFR3)
Reference Test Number:  

Ship overnight, ambient temperature, to St. Francis Center for Genetic Testing. This test is for Hypochondroplasia ONLY. If "FGFR3" is ordered, doctor must specifiy if its for Achondroplasia, Hypochondroplasia, or Muenke Syndrome.  


St Francis does NOT accept Saturday delivery.


Testing Limitations

 Deletions of the entire FGFR3 gene or mutations located outside the tested region (roughly 5-10%) are not detected.