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When completed, this form will contain Protected Health Information. Follow your institutional HIPAA guidelines when
using this form.
Patient/Member Information
Patient Name:
Subscriber Name:
Provider/Contact Information
Ordering Provider:
Contact Person:
DOB:
DOB
Subscriber Number:
Phone:
Fax:
Genetic Test Information
Name of test: Mitochondrial disorders panel including sequencing and del/dup analysis
of nuclear and mitochondrial genes
Test Code:
CPT code(s):
ICD10 code(s):
List price:
Do you have a preferred clinical laboratory for genetic testing?
_X NO (or not applicable)
__ YES, (provide preferred lab name):
Please state the reason why testing should/must be performed at this laboratory:
Clinical Reasoning for Genetic Test (Attach the clinic note)
*** is a ***year old *** with a history of ***
-What laboratory and/or clinical testing have been performed to date (genetic and other
testing)?
-Why is genetic testing necessary at this time? Mitochondrial disorders are a clinically
heterogeneous group of genetic disorders characterized by multiple organ system
involvement affecting systems that require high amounts of energy (brain, skeletal
muscle, heart, kidney, endocrine system, etc). The signs and symptoms of mitochondrial
disorders vary greatly from patient to patient, making an accurate clinical diagnosis very
difficult. Additionally, the prognosis varies considerably, from treatable to early death
among these variable genotypes.
-How will the results of the genetic test, whether negative or positive, impact the future
management of the member being tested? (explain all that apply):
Stop the need for further diagnostic testing: A clinically significant result consistent with
the patient’s phenotype would stop the need for further genetic testing or for a
costly muscle biopsy.
When completed, this form will contain Protected Health Information. Follow your institutional HIPAA guidelines when
using this form.
Inform on prognosis: A clinically significant result will allow us to analyze
precedent and provide information to the family and potentially other individuals
with the genetic change regarding natural history, prognosis and involvement of
other organ systems (if available).
Change treatment plan (e.g. medical or surgical decision-making or treatment):
Various treatments for mitochondrial disorders have been described depending
upon the specific mitochondrial disorder identified 2.
Change surveillance (e.g. annual echocardiograms, either begin or stop): Depending
on the mitochondrial disorder diagnosed, the patient may be at an increased risk
for other complications requiring increased surveillance including cardiac
complications, seizures, brain abnormalities, etc.
Provide information for family members: Identification of a clinically significant
finding allows for our patient to better understand the risk to their future
children. A positive result would also allow for expanded reproductive options
including preimplantation genetic diagnosis. Finally, at-risk family members
could be offered targeted and informative testing.
-What is the probability that this test will be positive? If this is not known, then please
indicate which clinical features increase the probability that this test will provide a diagnosis.
Our patient’s clinical features are highly suspicious of a mitochondrial disorder including
***. The likelihood this test will be positive is unknown.
-If this is a request is for a gene panel, then please describe why a single gene test is not as
useful. The signs and symptoms of mitochondrial disorders vary greatly from patient to
patient, making an accurate clinical diagnosis very difficult. Analyzing mitochondrial
disorders on a gene-by-gene basis is not practical and also not cost effective.
-Please list specific guidelines and/or references in support of your request:
1. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview
2. Scarpelli M, Todeschini A, Rinaldi F, Rota S, Padovani A, Filosto M. Strategies for treating mitochondrial
disorders: an update (2014). Mol Genet Metab. 113(4):253-60.
3. Rotig, A. Genetic basis of mitochondrial respiratory chain disorders (2010). Diabetes Metab 36(2):97107.