Dr. Shoffner is board certified in Neurology, Biochemical Genetics, and in Molecular Genetics and directs the Molecular Laboratory at Medical Neurogenetics. Dr. Shoffner is internationally recognized and called upon for his work (clinical and research) with rare diseases (mitochondrial disease) and has authored over 80 research publications.

In order to provide the best possible care for you or your child, it is crucial that a thorough review of the medical records is done to ensure that the referral to our practice is appropriate. We want to be sure that we have assessed your case carefully and that investigation by our group is appropriate.

All patients wanting to see Dr. Shoffner are required to obtain a referral to see him. This referral may come from the patient's PCP if the patient has an HMO policy or from a referring Physician for all other types of insurance plans.

Frozen muscle is often damaged by the freezing process. Many hospitals do not have personnel with the expertise to process frozen muscle correctly. When muscle is processed incorrectly, the test results can be affected. In addition, freezing muscle reduces the information that can be obtained from the muscle biopsy. Once muscle is frozen, important aspects of mitochondrial function such as Complex V (ATP synthase) function cannot be accurately assessed. Fresh muscle biopsies maximize the investigation of mitochondrial disease.

Testing generally takes 6-8 weeks to complete. Cells must be grown and complex testing must be performed, analyzed and verified. Mitochondrial diseases are one of the most complex categories of disease and require careful, experienced assessment.

Most mitochondrial diseases do NOT have easy names (e.g. MERRF, MELAS, Leigh disease). Diseases are characterized genetically as well as by complex biochemical criteria. This means that it is often incorrect to categorize patients purely by the enzymology (i.e. saying that you have a Complex I defect for example). Mitochondrial disease is much more complex than that. This is a point of confusion with many physicians, patients, and parents. It is best to discuss these concepts at your appointments. BE CAREFUL ABOUT MAKING ASSUMPTIONS OR DRAWING YOUR OWN CONCLUSIONS!

There are at least a thousand genes from the nuclear DNA (the 46 chromosomes inherited from both parents) and the mitochondrial DNA (the DNA that is inherited from the mother) that are required by the mitochondria to function normally. This means that if you grouped all patients with mitochondrial disease into one room, most individuals would look different because the mitochondrial disease is caused by a different gene mutation. This makes it very difficult for families to talk to each other about their disease and compare notes or to locate useful information on the internet. The best thing to do is to discuss the disease with your doctor.

Less that 15-20% of mitochondrial diseases are inherited from the mother. Most mitochondrial diseases are inherited from both parents. There are exceptions where only one parent (either the mother or father) transmits the mitochondrial disease to their child.

Most mitochondrial diseases are not progressive. Patients usually have chronic illnesses associated with a mitochondrial disease or mitochondrial dysfunction. Careful clinical and laboratory evaluation is needed in order to address this type of question. Results of the evaluation must be correlated with complex criteria for diagnosis of mitochondrial disease.

All discussions regarding results will occur in an appointment to the clinic with Dr. Shoffner or Maureen Starnes, RN, CPNP (our Nurse Practitioner). Due to the complexity of the testing that is performed, face-to-face interaction regarding results is important to facilitate a clear understanding.

Due to the complex nature of mitochondrial diseases, we address questions and concerns during follow up appointments. We strongly recommend that any managing physician call Dr. Shoffner with questions. This allows us to discuss issues and maintain continuity of care.

If you are a patient of Dr. Shoffner's, we recommend that you call our office (678-225-0222) to schedule an appointment with either Dr. Shoffner or Maureen Starnes, RN, CPNP (our Nurse Practitioner). If you are not a patient of Dr. Shoffner's, but had testing done in our lab, the ordering physician will need to contact Dr. Shoffner to discuss any questions or concerns.

We recommend Tishcon brand due to published data concerning the bioavailability of this product and our many years of experience with dosing using this brand. This brand also offers a formulation of CoQ10 that is concentrated, allowing patients to take smaller amounts of liquid. Tishcon documents the dose of Vitamin E that is included in their CoQ10 products, which is helpful to avoid over-dosing of Vitamin E. Other brands may be acceptable, and each patient should discuss this during follow-up appointments. The dosage of any brand of CoQ10 is regulated by performing white blood cell (leukocyte) CoQ10 measurements. Plasma or serum CoQ10 levels are not felt to be useful for monitoring dosing.

There is no data to support the use of hyperbaric oxygen in mitochondrial disease. Hyperbaric oxygen may have adverse effects in some patients.

BCBS, Aetna, Cigna and United Healthcare.

We are not a participating Laboratory or Clinical office with the Medicaid or Medicare Programs.

The patient may pay out of pocket for any additional testing ordered by Dr. Shoffner or any Referring Physician. We accept Visa, Master Card, Certified Check and Money Orders as a form of payment for testing.

1. Please see the Neurochemistry Collection Protocol(s) I and II located here.

1. Tetrahydrobiopterin is the only test that requires the MNG tube. There are antioxidants in tube #3 that are required for testing.
2. It is strongly encouraged that specimen are collected in our tubes so that we can be assured that protocol has been followed. Additionally, if any tests are requested at a later date from the same specimen, we can more definitively approve them if our tubes have been used and our protocols have been followed.

1. Yes, the test may be ordered, BUT: Our reference ranges are based on the first 1ml collected from the tap.

1. 5-Methyltetrahydrofolate
     i.  Yes, requires 0.5 mL minimum
2. Succinyladenosine
     i.  Yes, requires 0.5 mL minimum
3. Neopterin
     i.  Yes, requires 0.5 mL minimum
4. Tetrahydrobiopterin
     i.  NO, must be collected in MNG tube # 3 (contains antioxidants), see Neurochemistry FAQ #1.
5. Lactate
     i.  Yes
6. Amino Acids
     i.  Yes
7. Pyridoxal 5'-phosphate
     i.  Yes

1. NO, however not all testing will be completed.
     i  Tube # 1 is required for Neurotransmitter Metabolites, and Tube # 3 is required for tetrahydrobiopterin.
    ii If tapping a baby and unable to collect a lot of fluid, AND not ordering lactate or amino acids, fill tubes 1, 3, and 5.
2. YES, if lactate and/or amino acids are being ordered, then all 5 tubes must be filled.

1. Yes! CSF Pyruvate testing requires a separate tube. Additional tube with Perchloric Acid required for CSF PYRUVATE testing. 1ml CSF to 2ml 8% PCA (7ml of 70% in 100ml H2O = 8% PCA). Then FREEZE!

1. Just adjust the volume of PCA so that the final concentration of PCA in CSF is the same as the 8%. (C1V1=C2V2)

1. -80°C (-60°C is acceptable if -80°C is unavailable)

1. If stored in the freezer they can last for 2 + years
2. If stored in a refrigerator they can last up to 2 years
3. If the tubes have been left at room temperature they will last for approximately 2 weeks

1. The answer is almost always yes, depending on whether or not you sent us all 5 tubes. Fill out the add-on test request form on the Test Request Page (insert link) and fax to the number at the top of the form. If testing is unable to be performed, your facility will be notified.

1. Please see the Specimen Collection and Processing Requirements located here.

1. Please see the Specimen Collection and Processing Requirements located here.

1. No, HOWEVER all packages must be shipped OVERNIGHT (see molecular/mitochondrial FAQ # 1 for shipping info), and be RECEIVED MONDAY THROUGH FRIDAY. We do NOT take delivery of packages on Saturday, Sunday, or on Holidays.

1. We strongly discourage Friday draws, as we do NOT accept Saturday, Sunday (or holiday) deliveries. If there is no other alternative to a Friday draw, then the blood specimens must be kept ambient (room temperature), on a rocker, over the weekend, and sent so that the package arrives at Medical Neurogenetics no later than Tuesday as the integrity of the specimen may be jeopardized leading to the cancellation of testing.