Thanatophoric dyplasia type I : FGFR3 Targeted Analysis

Test Information

FGFR3 testing is not offered as a panel. You must specify which condition is clinically suspected. Testing for each condition must be ordered individually and will be billed separately. If you request more than one test, please specify the order in which they should be run or if they should be run simultaneously.

Turnaround Time

2 weeks

CPT Code(s)

81404

Cost

$500

Genes

Clinical Information

Thanatophoric dysplasia, types I and II both display micromelia, short ribs, small thorax and are usually lethal. Type I will display bowed femurs while type II will display straight femurs and a clover-leaf skull.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Detection

FGFR3 mutations will be identified in 99% of patients with thanatophoric dysplasia, types I and II.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Targeted Analysis
Meet Ella

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...

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