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#: DEPARTMENT OF NEUROLOGY COLUMBIA COLLEGE OF PHYSICIANS & SURGEONS Room 4-420 630 West 168th Street, New York, NY 10032 Telephone #: 212-305-3947 Fax#: 212-305-3986 REQUISITION FORM NOTE: ALL FORMS MUST BE FILLED OUT COMPLETELY FOR SAMPLE TO BE PROCESSED Name: Referring Physician Information Patient Information Name: Last First Last First City: State: Zip: City: State: Zip Phone: Fax: Phone: SS #: Sex: Date of Birth: Age: Clinical Information Tissue submitted: Blood Muscle Other: Billing Information Charges will be billed to the submitting institution/physician Institution: Department: Date Specimen Taken: Date Specimen Sent: Phone: Blood & Fluid Precautions? Yes No Presenting Complaint: PATIENT OR INSURED/RESPONSIBLE ADULT AUTHORIZATION: Signature: Date:

TESTS REQUESTED (please check appropriate boxes) I. PCR/RFLP ANALYSES TO DETECT MTDNA POINT MUTATIONS - $225 PER MUTATION Clinical Phenotype Nucleotide Comment Test Requested MELAS/MERRF/NARP battery (6 most frequently observed mutations*) MELAS 3243* Frequent " 3256* " 3271* " 3291 " 5814 " 8356* MERRF overlap " 9957 MELAS battery (7 mutations) MERRF 8344* Frequent " 8356* MELAS overlap " 8363 " 3243* MELAS overlap MERRF battery (4 mutations) NARP/Leigh syndrome (MILS) 8851 " 8993* T G; T C " 9176 NARP/MILS battery (3 mutations) PEO 3243 Frequent " 3256 " # 5703 PEO battery (3 mutations) LHON 3460 " 11778 Frequent " 14484 LHON battery (3 primary mutations) Myopathy 3250 " 3260 " # 3302 " # 15990 Myopathy battery (4 mutations) Cardiomyopathy 3243 " 3260 " 3303 " 4269 " 4300 " 8363 " 9997 Cardiomyopathy battery (7 mutations) # These mutations are difficult to detect in blood; a muscle biopsy is preferred

POINT MUTATIONS ASSOCIATED WITH OTHER DISORDERS Aminoglycoside-induced deafness 1555 Diabetes (often with deafness) 3243 Myopathy, ptosis, psychiatric problems 3251 Retinopathy, diabetes, dementia 3252 Seizures, PEO, diabetes, deafness 3256 Cardiomyopathy, deafness, epilepsy 4269 Chorea, dementia, ataxia, deafness 5549 Sensorineural deafness 7445 Sensorineural deafness, ataxia, myoclonus 7271 GE reflux, ADD, asthma 10044 LHON, dystonia 14459 Diabetes, myopathy 14709 Infantile respiratory deficiency 15923 II. SOUTHERN BLOT TO DETECT MTDNA REARRANGEMENTS $ 500 Clinical Phenotype: Sporadic Kearns-Sayre syndrome; Sporadic PEO; Familial PEO III. QUANTITATIVE PCR TO DETECT MTDNA DEPLETION $ 500 IV. GENE SEQUENCING (PER GENE) $ 500 VI. MITOCHONDRIAL ENZYME ANALYSIS $ 550 Panel of 6 enzymes: Cytochrome c oxidase; Succinate cytochrome c reductase; NADH-cytochrome c reductase; NADH-dehydrogenase; Citrate synthase; Succinate dehydrogenase VII. THYMIDINE PHOSPHORYLASE ASSAY $ 400 MNGIE syndrome (Mitochondrial neurogastrointestinal encephalomyopathy) VIII. COENZYME Q10 Blood $ 100 Muscle $ 200 Rather than specifying any specific tests, check here to authorize any and all testing to be performed by Columbia-Presbyterian Medical Center, based on the information provided. Physician's signature Date

MITOCHONDRIAL DISEASE PATIENT DATA ENTRY FORM Patient Name: Date: CLINICAL INFORMATION: Clinical diagnosis: Age of onset: Clinical features (circle appropriate responses; Y = yes; N = no; NA = information not available) Symptoms Signs 1st symptom: Floppy baby Y N NA Perinatal insult Y N NA Asthenia Y N NA Developmental delay Y N NA Short stature Y N NA Retarded in school Y N NA Hirsute Y N NA Exercise intolerance Y N NA Congestive heart failure Y N NA Nausea/vomiting Y N NA Resp. insufficiency Y N NA Gastrointest. pseudoobstruction Y N NA Diabetes mellitus Y N NA Headache Y N NA Hypothyroidism Y N NA Migraine headache Y N NA Hypoparathyroidism Y N NA Stroke Y N NA Optic atrophy Y N NA Episodic coma Y N NA Ophthalmoplegia Y N NA Dementia Y N NA Ptosis Y N NA Seizures Y N NA Retinopathy Y N NA Myoclonus Y N NA Cerebral blindness Y N NA Cerebellar signs Y N NA Hearing loss Y N NA Proximal limb weakness Y N NA Neuropathy Y N NA Other: Other: State neuropathy type: LABORATORY STUDIES: IMAGING STUDIES: Elevated lactate Y N NA Angiogram Normal Abnormal NA Elevated pyruvate Y N NA MRI Normal Abnormal NA Elevated CSF protein Y N NA SPECT Normal Abnormal NA ECG - Heart Block Y N NA CBF Normal Abnormal NA ECG - Pre-excitation Y N NA CT Normal Abnormal NA EMG/NCS - Myopathic Y N NA BG calcification: Y N NA EMG/NCS - Neurogenic Y N NA Axonal Demyelinating Mixed NA Heart block Pre-excitation NA Other: Other: Positive family history: Y N NA Died: Y N If yes, please explain: Autopsy: Y N IMPORTANT: TO ASSIST IN DETERMINING THE MOST RELEVANT TESTS, PLEASE ATTACH COPIES OF MUSCLE HISTOLOGY AND BIOCHEMISTRY REPORTS, IF AVAILABLE

DEPARTMENT OF NEUROLOGY COLUMBIA COLLEGE OF PHYSICIANS AND SURGEONS Room 4-420 630 West 168th Street, New York, NY 10032 Telephone #: 212-305-3947 Fax #: 212-305-3986 CONSENT FOR MITOCHONDRIAL DISEASE TESTING I, hereby agree to have biochemical and DNA-based testing performed in order to detect mitochondrial disease. This testing will be performed on muscle biopsy tissue previously obtained or on blood drawn for this purpose. If blood will be drawn, I understand that: 1. Approximately 10ml (about 1 tablespoon) of my blood will be drawn from a vein. I understand that this procedure will cause a sudden pain which will quickly disappear and may be followed by a black and blue mark. 2. In the laboratory, DNA, the material that carries the genetic information, will be extracted from the blood that is drawn. 3. Depending on a patient s particular condition, specific studies will be performed in the laboratory trying to identify a specific alteration in the DNA. These tests are >99% accurate, but rare variation in the DNA of individuals may sometimes cause uncertainty in interpretation of the results. 4. A negative result will exclude the presence of a particular mutation (or mutations) that were tested for in the tissue that was analyzed. However, it does not exclude the possibility that you carry other DNA mutations or that a particular mutation is present in tissues other than those that were tested. 5. In muscle biopsy tissue, the activities of 6 mitochondrial enzymes will be tested. I understand that the condition of the muscle specimen must be adequate for enzyme analysis and that sometimes there may be uncertainty in interpretation of the results. 6. The test results will be reported to the physician who submits the sample and I can then discuss these with them and may also request genetic counseling. My signature below constitutes acknowledgment that the proposed testing has been satisfactorily explained to me and that I hereby give my authorization and consent for this testing. Signature (Participant or Legal Guardian) Date

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