LMNA - ARUP Laboratories

advertisement
[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 testing of the LMNA gene. Mutations in LMNA cause a
broad range of disorders collectively termed laminopathies, including [condition]. [Choose appropriate disorder
description below:]
Hutchinson-Gilford progeria syndrome (HGPS) is an autosomal dominant disorder associated with accelerated
aging, profound failure to thrive, characteristic facies, alopecia, joint degeneration, growth retardation, and
average life span of 13 years.
Emery-Dreifuss muscular dystrophy, type 2 (EDMD2) is an autosomal dominant disorder associated with joint
contractures, progressive muscle weakness and wasting, and cardiac disease with conduction defects and
arrhythmias.
Limb Girdle muscular dystrophy 1B (LGMD1B) is an autosomal dominant disorder associated with progressive
proximal lower limb weakness and atrioventricular cardiac conduction complications.
Charcot-Marie-Tooth 2B1 (CMT2B1) is an autosomal recessive disorder associated with symmetrical distal
muscle weakness and atrophy, and depressed or absent tendon reflexes with onset around 14 years of age.
Familial partial lipodystrophy, Dunnigan type (FLPD) is an autosomal dominant disorder associated with postpubescent progressive loss of subcutaneous fat from the extremities and excess fat accumulation on the face and
neck.
Dilated cardiomyopathy (DCM) is an autosomal dominant disorder associated with progressive ventricular
dilation and impaired systolic function leading to congestive heart failure.
Mandibuloacral dysplasia (MAD) is an autosomal dominant disorder associated with post-natal growth
retardation, craniofacial and skeletal anomalies and mottled cutaneous pigmentation. Symptoms are usually
evident at approximately 4 years of age.
From www.aruplab.com
Revision 1
Created: xx/xx/xxxx
Atypical Werner syndrome (WS) is a Progeria-like syndrome associated with partial alopecia, premature aging,
short stature, hypogonadism, osteoporosis, premature atherosclerosis, weak voice, and cataracts.
Restrictive Dermopathy (RD) is a lethal disorder associated with skin tightness that causes fetal akinesia or
hypokinesia deformation sequence.
This patient is suspicious for [condition] based on [describe symptomatology] and/or family history [describe].
Molecular testing can confirm a diagnosis of [condition], which will guide medical management decisions. An
established diagnosis will also end the “diagnostic odyssey” and eliminate the need for further diagnostic testing.
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]
From www.aruplab.com
Revision 1
Created: xx/xx/xxxx
Download