Blood
Tests Albumin
and Protein Copper PCR
for Fragile X
Mutation Urine
Studies 24
Hour Urinary
Copper Urine
Catecholamines Urine
Protoporphyrins CSF
Studies AFB
Staining and
Culture Lactate,
Pyruvate Tissue
Studies Muscle
Biopsy: Mitochondrial
Enzymes Imaging
Studies Carotid
Doppler Head
CT with and without
Contrast Electrophysiology
Studies Specialized
Studies Resources Tests
Complete
Alpha-Feto
Protein
Ammonia
Anti-AcetylCholine
Receptor Antibody
Titers
Antiepileptic
Drug Levels
Anti-Nuclear
Antibodies
Anti-Streptococcal
Titers
Arterial
Blood Gas
Arterial
Lactate,
Pyruvate
Biotinidase
Assay
Calcium
Carnitine
CBC
with
Differential
Cholesterol
CPK
Electrolytes
Erythrocyte
Sedimentation
Rate
FISH
for Prader Willi, Angelman
Syndromes
FTA
Glucose
HIV
Testing (Western
Blot)
Karyotype
Lead
Liver
Function
Tests
Lysosomal
Enzymes
Magnesium
PCR
for Dystrophin Gene
PCR
for SMN and NAIP
Genes
PCRs
- Other Specific
Tests
Plasma
Amino Acids
Serum
Immunoglobulin
Levels
Thyroid
Function
Tests
VDRL
Very
Long Chain Fatty
Acids
Vitamin
E Level
24
Hour Urine Heavy
Metals
Reducing
Substances Urinalysis
Urine
Amino Acids
Urine
Mucopolysaccharides
Urine
Organic Acids
Urine
Sulfites
Urine
Toxicology Screen
Amino
Acids
Bacterial
Culture
Cell
Counts
Cryptococcal
Antigen
Myelin
Basic Protein
Oligoclonal
Bands
Opening
Pressure
Muscle
Biopsy: Pathology
Catheter
Angiogram
Chest
CT
Echocardiogram
Head
CT without contrast
Head
Ultrasound
Orbital
CT
Spine
MRI
Growth
Charts- Boys
Growth Charts- Girls