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Test Code ACH DNA Achondroplasia DNA Analysis

Clinical System Name

Achondroplasia DNA Evaluation

Description

This test is for Achondroplasia ONLY. If "FGFR3" is ordered, doctor must specify if its for Achondroplasia, Hypochondroplasia, or Muenke Syndrome.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA Tube

Preferred Vol: Two 5.0 mL (10 mL)

Minimum Vol: 1.0 mL

 

Note:  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: 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.

 

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: Detection of a G380R (c.1138G>A or G>C) mutation by PCR and restriction enzyme digestion

Analytical Volume:

Limitations:

CPT Codes

81401

Clinical Utility

Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features. In infancy, hypotonia is typical, and development of motor milestones is often delayed. Intelligence and life span are usually normal.

Send Out Instructions

 

Reference Test Name: Achondroplasia (FGFR3)
Reference Test Number:  
Instructions:

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

 

St Francis does NOT accept Saturday delivery.