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The clinical and genetic heterogeneity of mitochondrial disorders often makes establishing a molecular diagnosis challenging. The sheer number of genes related to mitochondrial function has rendered comprehensive genetic testing impossible for many patients. Accordingly, the Transgenomic NuclearMitome Test is indicated for patients for whom a mitochondrial disorder is suspected, but testing of the mitochondrial genome and possibly some specific autosomal genes was negative.

Product Description

The clinical and genetic heterogeneity of mitochondrial disorders often makes establishing a molecular diagnosis challenging. The sheer number of genes related to mitochondrial function has rendered comprehensive genetic testing impossible for many patients. Accordingly, the Transgenomic NuclearMitome Test is indicated for patients for whom a mitochondrial disorder is suspected, but testing of the mitochondrial genome and possibly some specific autosomal genes was negative.
The typical patient for whom the NuclearMitome Test would be ordered will have symptoms typical of mitochondrial disease, such as, but not limited to, myopathy, exercise intolerance, lactic acidosis, seizures, developmental regression, respiratory chain deficiencies, ataxia, or neuropathy.



The NuclearMitome Test uses next-generation sequencing technology to analyze more than 400 nuclear genes relevant to normal mitochondrial function or conditions that mimic mitochondrial disease. The presence of suspected disease-causing variants is confirmed by Sanger sequencing.

The Transgenomic NuclearMitome test is a comprehensive gene panel that tests for variants in 448 nuclear genes important for mitochondrial function. Solution-based hybrid capture of the targeted genes coupled to next-generation sequencing on the Illumina® HiSeq platform was used to identify DNA variants. This test is performed jointly between Transgenomic, and the Medical College of Wisconsin, 8701 Watertown Plank Road, TBRC room 2373, Milwaukee, WI 53226, Telephone: (414)955-2550, CLIA #52D1043369. All reported variants were confirmed by Sanger sequencing. Variants are classified by comparison with reference sequences and through review of published literature, public variant databases, and Transgenomic’s sequencing results. In general, dominant and X-linked variants with a minor allele frequency (MAF) ≥ 0.2% and recessive variants with a MAF ≥ 0.5% in ostensibly healthy control populations are considered polymorphisms. PolyPhen-2 in silico analysis, trained with the HumVar dataset, was used to predict the pathogenicity of all nonsynonymous variants of unknown significance (Nat Methods, 2010, 7:248-9, PubMed 20354512); however, the accuracy of PolyPhen-2’s predictions has not been established in the context of mitochondrial disorders and these specific genes. Large deletions and duplications cannot be effectively characterized by this method. In addition, some regions of targeted genes cannot be effectively amplified and sequenced as a result of technical limitations of the assay. This report includes any detected variants categorized as deleterious, predicted deleterious, possibly deleterious, and variants of unknown significance. Benign variants are not reported. Rare sequence variants, regions of GC-rich structure or repetitive sequences may interfere with analysis. These results should be interpreted in the context of family history, clinical findings, and other laboratory data as appropriate. Interpretation and classification of variants are subject to change in light of new evidence.

12 weeks for index tests, 4-6 weeks for family tests

  • 4 ml blood in a plastic EDTA tube shipped at room temperature

Ship to: Transgenomic, 5 Science Park, New Haven CT, 06511

  1. Vasta et al. (2009) Next generation sequence analysis for mitochondrial disorders. Genome Med. 1:100, PubMed 19852779

Order a complimentary neurology specimen collection kit.

Statement on Billing Policies

Transgenomic believes health care costs are shared obligations between a patient and the service provider.

Patients actively participate in their own health care by selecting health plans, physicians, pharmacies, etc. As part of that participation, patients agree to pay a percentage of the services and products they use. These payments are contractually obligated and take the form of co-payments and deductibles.

Transgenomic believes no individual or entity should interfere with established contracts between a patient and a third party insurance payer.

An individual chooses the health care coverage and services they need by purchasing health care coverage from a third party insurance provider. When a third party insurance plan defers an individual’s health care costs in exchange for payment (a monthly premium) a contract has been created.

Many states have specific laws barring the interference by outside parties in a contract. For example:

Section 18-13-119 of the Colorado Criminal Code indicates that waiving or reducing of co-payment or deductibles (interference with contractual obligations entered into between the insured and the insurer) is a class 1 petty offense.

Florida Statute § 483.035 and Florida Administrative Code 59A-7.037 indicates no owner, director, administrator, physician, surgeon, consultant, employee, organization, agency, representative, or person either directly or indirectly shall pay or receive any commission, bonus, kickback, rebate or gratuity or engage in any split fee arrangement in any form whatsoever for the referral of a patient.

Massachusetts G.L.c. 111D, § 8(4) indicates a clinical laboratory shall not: (4) offer or give a commission, rebate, or other fee, directly or indirectly to any person as consideration for the referral of a specimen derived from a human body to a clinical laboratory for examination by such laboratory.

In Texas, the State Attorney General has indicated “the payment of benefits under an assignment does not relieve the covered person of contractual responsibility for the payment of deductibles and co-payments. A physician or other health care provider may not waive co-payments or deductibles by acceptance of an assignment.”

Additionally, third party insurance plans have specific language regarding the obligations of the insured:

From Cigna’s Patient’s Bill of Rights: (You have the responsibility to) “Pay all co-pays, deductibles and coinsurance for which you are responsible at the time service is rendered or when they are due.”

Transgenomic believes participating with both government and private payers will result in the lowest overall costs to the health care system.

Contracting and accepting both private and Government patients ensures the largest possible number of patients receive needed health care services.

Transgenomic believes no action it takes should jeopardize the patient-physician-provider relationship.

The Affordable Care Act of 2010 states, “A group health plan, or a health insurance issuer offering group or individual health insurance coverage, must not rescind coverage except in the case of fraud or an intentional misrepresentation of a material fact.”

The Insurance Lobby states, “In most states, it is illegal to routinely waive co-pays and deductibles for patients. Health care providers who do this may be charged with the crime of health insurance fraud because they are claiming the wrong amount for services when they make insurance claims. Example: If a patient has a 10 percent co-pay, the insurance company pays $90 on a $100 bill. But if the health care provider waives the co-pay, the patient’s bill is only $90 total, not $100.”

Transgenomic believes in providing comprehensive patient services.

No testing begins without the patient’s permission. Transgenomic is an in-network provider with many major insurance carriers to keep the patient’s out-of-pocket expenses as low as possible.

Benefits Investigation – Once we receive a test order, a Patient Services Associate contacts the patient’s insurance carrier to determine insurance benefits. We then contact the patient to explain their benefits and provide an estimate of out-of-pocket expenses.

Insurance Pre-authorization – We work with the patient, their insurance company, and physician to have testing pre-approved. This keeps the patient’s out-of-pocket expenses as low as possible.

Appeals – If the patient’s insurance company rejects the claim, we work with the physician and patient to appeal the decision.

Flexible Payment Plans – Patients may choose one of our flexible payment plans to help manage their out-of-pocket expenses. These are offered with no interest or financing fees. We do not require credit cards up front.

Patients receive consistent discounts across our entire catalogue of tests and not just for certain specialty tests.

Transgenomic believes in business practices that put patients first.

Transgenomic, Inc. ©2012 Transgenomic, Inc. All rights reserved.  Document No. 602216-00 02/12

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