CLINICAL LABORATORY--GENETICS
THE BUFFALO GENERAL HOSPITAL
Room A-762, 100 High Street, NY 14203
 (716) 859-7741 FAX (716) 859-7749
Georgirene D. Vladutiu, Ph.D., Director

REQUEST FOR LABORATORY ANALYSIS

PATIENT INFORMATION:

Name:____________________________________

Address:__________________________________

City/State/Zip:______________________________

Sex:____  DOB: _______  Age: ____  Race:_____

Phone: ___________________

REFERRING PHYSICIAN INFORMATION:

Name:______________________________________

Address:____________________________________

City/State/Zip:________________________________

Phone:_______________  Fax:__________________

Email:______________________________________
Mail Results To: Referring Physician (  )
or Institution (  )

INSTITUTION INFORMATION:
(The institution will be billed.)

Guarantor:

Contact Person:

Dept:

Address:

City/State/Zip:

Phone:

SPECIMEN INFORMATION: Tissue Submitted:   [ ] Whole Blood   [ ] Skeletal Muscle (type)____________   [ ] Cardiac Muscle   [ ] Liver   [ ] Other: _________________________

Tissue Source:   [ ] Autopsy   [ ] Biopsy

Collection Date:________________ Specimen Storage Prior to Shipment:   [ ] Liquid Nitrogen   [ ] -70º C   [ ] -20º C

This patient has consented to the testing of his/her tissue or body fluid for an inborn error of metabolism. ______  (Physician's initials.)

REQUEST FOR LABORATORY ANALYSIS -- Page 2
PATIENT NAME: ___________________________ REASON FOR REFERRAL: __________________	CURRENT MEDICATIONS:
Please circle appropriate choices: FAMILY HISTORY     50 consanguinity in family   100 mental retardation   125 psychomotor retardation   150 metabolic disorder, hx of   175 viral infection, assn. with   200 affected sib/parent/child   250 ethnic predilection   275 no family hx of present illness   280 hearing impairment   281 diabetes NEUROMUSCULAR ABNORMALITIES 2000 muscle pain   2050 muscle weakness   3000 muscle cramps   3010 fibromyalgia   3025 fatigue   3030 lethargy   3050 stiffness   3060 abnormal gait   3065 history of falling   3066 clumsiness   3075 ataxia   3080 dystonia   3085 spastic diplegia   3090 dysphagia   3092 dysarthria   4000 exercise intolerance   4001 normal EEG   4004 abnormal EEG   4025 normal brain MRI   4005 abnormal MRI/CT   4007 normal EMG   4010 abnormal EMG   4012 normal EKG   4013 abnormal EKG   4015 demyelination   4017 nerve dysfunction   4019 normal ischemic exercise test   4020 abnormal ischemic exercise test   4030 encephalopathy   4040 microcephaly   4050 myoglobinuria   4051 no pigmenturia	GENERAL CHARACTERISTICS 1000 hepatomegaly   1025 hepatitis   1026 liver failure   1027 hepatic dysfunction   1050 splenomegaly   1100 cardiomegaly   1125 cardiomyopathy   1140 other cardiac abnormalities   1145 kidney abnormalities   1146 renal failure   1147 gastro-intestinal problems   1148 hyperthyroidism   1150 unusual hair or nails   1175 apnea   1200 developmental delay   1215 microcephaly   1222 motor regression   1225 short stature   1250 coarse facies   1275 dysmorphic features   1276 congenital malformations   1300 corneal clouding   1325 retinal degeneration   1350 cataracts   1375 skeletal anomalies   1400 umbilical hernia   1425 inguinal hernia   1450 failure to thrive   1500 vomiting   1550 recurrent infections   1600 fasting-induced symptoms   1625 normal intelligence   1650 intellectual impairment   1660 normal hearing   1675 hearing impairment   1700 progressive course   1725 non-progressive course   1750 hypotonia   1760 respiratory distress   1761 multiple congenital anomalies 1770 cerebral palsy   1775 visual impairment   1776 cystic fibrosis   1777 behavior problems

REQUEST FOR LABORATORY ANALYSIS -- Page 3

NEUROMUSCULAR ABNORMALITIES--Continued 4052 myoglobinemia   5000 seizures   5001 tremor 5050 stroke   6000 myoclonus   6025 choreoathetoid movements   6027 parkinsonism   6028 decreased tone   6030 normal ophthalmologic exam   6035 abnormal ophthalmologic exam   6050 ptosis   6051 headache   6052 migraine   6075 visual loss   7000 ophthalmoplegia   7050 rhabdomyolysis   8000 heat stroke   8050 malignant hyperthermia   8075 normal neurologic exam   8076 abnormal neurologic exam MUSCLE HISTOLOGY 11000 ragged red fibers   11010 no ragged red fibers   11012 increased trichrome staining   11025 esterase-positive fibers   11050 fiber type grouping   11070 type 1 fiber predominance   11075 type 2 fiber predominance   11100 fiber atrophy   11105 fiber hypertrophy   11125 fiber size variation   11150 central cores   11175 myopathic features   11180 neuropathic features   11185 inflammatory infiltrates   11200 fiber necrosis/regeneration   11250 denervating process   11265 few central nuclei   11270 moderate central nuclei   11275 many central nuclei   11276 no central nuclei   11280 normal biopsy   11285 vacuolar myopathy   11286 rimmed vacuoles ELECTRON MICROSCOPY 13000 membrane-bound glycogen   13050 glycogen pools   13051 normal glycogen   13100 abnormal number mitochondria

GENERAL CHARACTERISTICS--Continued 1800 cardiac abnormalities   1801 neurofibromatosis   13175 fascio-scapulo-humeral disease LABORATORY STUDIES 10000 metabolic acidosis   10025 no metabolic acidosis   10030 respiratory acidosis   10050 hypoglycemia   10055 no hypoglycemia   10075 neutropenia   10076 hemolytic anemia   10100 hyperammonemia   10125 no hyperammonemia   10150 lactic acidemia   10155 normal lactate   10160 lactate unknown   10200 ketosis   10225 no ketosis   10250 elevated CK   10260 normal CK   10265 CK unknown   10266 elevated aldolase   10267 normal aldolase   10275 elevated CSF protein   10277 normal CSF protein   10280 elevated liver enzymes   10285 normal liver enzymes   10286 iron deposition in hepatocytes   10300 elevated pyruvate   10310 normal pyruvate   10315 pyruvate unknown    10316 lactate/pyruvate >25   10318 lactate/pyruvate <25   10320 lactate/pyruvate normal 10325 elevated acylcarnitine   10330 plasma carnitine deficiency   10335 normal plasma carnitine   10350 elevated urine organic acids   10355 normal urine organic acids   10360 abnormal plasma amino acids   10366 abnormal urinary mucopolysaccharides   10365 normal plasma amino acids   10370 chromosome abnormality   10371 normal chromosomes MOLECULAR STUDIES 10375 MELAS mutation present 10376 MELAS mutation absent   10377 MERRF mutation present   10378 MERRF mutation absent

REQUEST FOR LABORATORY ANALYSIS -- Page 4
ELECTRON MICROSCOPY--Continued 13125 abnormal structure mitochondria   13130 normal mitochondria   13150 inclusions absent   13155 inclusions present   13160 vacuoles present   13165 vacuoles absent   13166 lipid droplets  13176 acute necrosis MUSCULAR HISTOCHEMISTRY 12000 phosphorylase absent   12025 phosphorylase present   12050 myoadenylate deaminase absent   12055 myoadenylate deaminase present   12100 cytochrome c oxidase absent   12125 cytochrome c oxidase present   12400 cytochrome c oxidase increased   12150 succinate dehydrogenase absent   12175 succinate dehydrogenase present   12410 succinate dehydrogenase increased   12200 phosphofructokinase absent   12225 phosphofructokinase present   12275 lipid storage absent   12250 lipid storage present   12325 glycogen storage absent   12300 glycogen storage present   12350 NADH reactions absent   12375 NADH reactions present   12450 NADH reactions increased	MOLECULAR STUDIES--Continued 10379 mtDNA deletion present   10380 mtDNA deletion absent   10381 NARP mutation present   10382 NARP mutation absent   10383 LHON mutation present   10384 LHON mutation absent   13230 CPT2 mutation present   13231 CPT2 mutation absent   13240 myophosphorylase mutation present   13241 myophosphorylase mutation absent   13250 myoadenylate deaminase mutation present   13251 myoadenylate deaminase mutation absent
I, the referring physician, will provide for genetic counseling of this patient if a hereditary disorder is identified as a result of the requested testing to insure that the results and implications are understood by the patient. (Required Signature) Referring Physician's Signature:_____________________________     Date:__________________

METABOLIC MYOPATHY MUTATION PROFILES

MUTATION PROFILE	MUTATION	FREQUENCY OF  MUTANT ALLELES (%)
Carnitine Palmitoyltransferase II Deficiency     Profile	S113L   413delAG   P50H   R503C   R631C	60                  20                <10                  <5                  <5
Myophosphorylase Deficiency	R49X   G204S	60-80                  10
Myoadenylate Deaminase Deficiency	Q12X   P48	95                  95
Exercise Intolerance  CPT II Myophosphorylase Myoadenylate Deaminase	S113L    413delAG    R49X   G204S   Q12X   P48L	60                  20                  60-80                  10                  95                  95

Prerequisites for any Metabolic Myopathy Mutation Profiles

Clinical: Patient should have evidence of pain, cramps, or stiffness with exertion ± myoglobinuria. Non-metabolic causes should be ruled out. A clinical summary must accompany all specimens sent for analysis.
Laboratory: Laboratory-based evidence for a metabolic myopathy should exist which may include but not be limited to elevated serum creatine kinase, an abnormal ischemic exercise test result, and an abnormal EMG. A summary of prior laboratory test results must accompany all specimens sent for analysis.
Consent Form: An Informed consent must be signed by the patient and accompany the specimen.
Specimen Requirement: 10 cc whole blood in EDTA, shipped to arrive within 24h of collection by overnight carrier at room temperature; 100 mgs skeletal muscle biopsy snap frozen in liquid nitrogen and stored at -70ºC until shipment on dry ice by overnight carrier.