Insurance Company s1

[Date]

[Insurance Company] [Address 1] [Address 2] [City State Zip]

Re: [Patient Name] Insurance ID: [ID #] DOB: XX/XX/XXXX

To whom it may concern,

DNA diagnostic testing for thanatophoric dysplasia is recommended for the pregnancy/ newborn. Thanatophoric dysplasia is dwarfism characterized by micromelia, bent limbs and occasionally a cloverleaf skull deformity. It is usually lethal in the perinatal period resulting from respiratory insufficiency. It typically results from a de novo dominant mutation. Confirmation of a diagnosis of thanatophoric dysplasia is helpful in several ways. It enables the NICU and parents to work together to have realistic expectations for the infant. Management focuses on the parents' wishes for provision of comfort-care for the newborn and whether they desire aggressive lifesaving efforts at delivery or in the NICU. A diagnosis also clarifies that the recurrence risk is not escalated for the same condition in future pregnancies.

Clinical and radiological examinations and prenatal ultrasounds often cannot accurately diagnose thanatophoric dysplasia. There are over 100 prenatal dwarfing conditions inherited in dominant, X-linked and recessive manners; some are lethal while others are not. Recommended medical management of the pregnancy, delivery and infant is highly variable depending on the specific skeletal dysplasia. Thus, molecular DNA diagnostic testing of the FGFR3 gene, which detects 99% of cases, is recommended when prenatal ultrasound findings or clinical examination is suspicious for thanatophoric dysplasia. Thus, it is critical to have an accurate diagnosis.

Please note that this test is performed for clinical management in a laboratory that is CLIA approved for high complexity testing.

Authorization should be obtained for: Test name: [Test name] Facility: ARUP Laboratories CPT codes: [CPT codes] Diagnosis code: [Diagnosis code]

Thank you for your time and attention to this matter.

Sincerely,

[Name of Ordering Physician] From www.aruplab.com Revision 1 Created: 01/25/2013 References:

Barbara Karczeski, MS and Garry R Cutting, MD. Thanatophoric Dysplasia Type I, Thanatophoric Dysplasia Type II; GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1366/ September 30, 2008

From www.aruplab.com Revision 1 Created: 01/25/2013