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Dwarfism Panel

Important Note

The Dwarfism Panel combines the individual tests Achonodroplasia DNA evaluation and Hypochondroplasia DNA evaluation into a panel. When a physician specifies this test, order both ACH DNA and HCH DNA.

Clinical System Name

Miscellaneous Test

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: RT

Storage location:Process sample immediately.  Do not spin. Affix large Cerner labels to tubes and place in room temp 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:

Stability

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

 

Availability

STAT Performed TAT
N   2 - 4  wks

 

Performing Laboratory

St Francis Center for Genetic Testing

Department

St Francis Center for Genetic Testing

6161 S Yale Ave

Tulsa, OK 74136

(866) 846 - 0315

 

Reference Range

Interpretive report provided.
 

Methodology

Method: Polymerase chain reaction (PCR) and DNA Sequencing of the region of exon 10 encompassing the most common HCH mutations. Detection of a G380R (c.1138G>A or G>C) mutation by PCR and restriction enzyme digestion.

Analytical Volume:

Limitations:

CPT Codes

81401, 81403

Clinical Utility

Both syndromes are characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, & macrocephaly. Other symptoms may include hypotonia in infancy; broad, short hands and feet; or mild joint laxity depending on the diagnosis. In both, intelligence and life span are usually normal

Send Out Instructions

 

Reference Test Name: Dwarfism Panel
Reference Test Number:  
Instructions:

Ship overnight, ambient temperature, to St. Francis Center for Genetic Testing. This test is for Achondroplasia 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

Mutations lying outside the tested regions (roughly 5-10% of cases of hypochondroplasia) will not be detected. Rare diagnostic errors can occur due to primer / probe site mutations or rare polymorphisms