[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,
I am writing on behalf of my patient to recommend DNA diagnostic testing for Ehlers-Danlos Syndrome
Type VI, kyphoscoliotic form (EDS VIA). EDSVI is an autosomal recessive multisystem disorder that is
characterized by a broad spectrum of clinical findings in one or more of the following areas:
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



Vascular: increase risk for arterial rupture
Skeletal: kyphoscoliosis, joint hypermobility
Cutaneous: thin hyperextensible and bruisable skin
Ocular: scleral fragility, increased risk for the rupture of the globe
Other: hypotonia, gross motor delay
Individuals with EDSVIA are at high risk of vascular rupture that may be life-threatening.
The diagnosis of EDS VIA is based on characteristic clinical and biochemical findings, as well as
molecular genetic testing of PLOD1, the only gene known to be associated with EDS VIA. Due to the
highly variable clinical presentation, DNA testing is important to establish timely diagnosis, early
intervention, disease management, lifestyle changes and tailored genetic counseling. This patient is
suspicious for EDS VIA based on [describe symptomatology] and/or family history [describe]. If a
germline mutation is identified in this patient, his/her recommended screening and medical management
will be significantly altered.
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]
References:
Heim P et al.Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management. Acta
Paediatr. 1998;87(6):708-710.
Rohrbach M et al. Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS
VIA): clinical, molecular and biochemical delineation. Orphanet j Rare Dis 2011;6:46.