mitochondrial diseases
The Diagnosis of Mitochondrial Diseases Brochure
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CPT Codes & Prices




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TEST

CPT CODES [unit]

SPECIFICS

PRICE

Mitochondrial DNA (mtDNA) Point Mutations      
Single mtDNA point mutation 83891[1], 83892[1], 83894[1], 83898[1], 8391226[1] Per point mutation $300
Frequent mtDNA point mutations Panel
(3243, 3256, 3271, 8344, 8356, 8993, 13513)
83891[1], 83892[7], 83894[7], 83898[7], 8391226[1] Per panel $1,200
MELAS mtDNA point mutations Panel (3243, 3256, 3271, 3291, 5814, 8356, 13513) 83891[1], 83892[7], 83894[7], 83898[7], 8391226[1] Per panel $1,200
MERRF mtDNA point mutations Panel (3243, 8344, 8356, 8363) 83891[1], 83892[4], 83894[4], 83898[4], 8391226[1] Per panel $750
NARP/MILS mtDNA point mutations Panel (8993*, 9176, 13513) 83891[1], 83892[6], 83894[3], 83898[3], 8391226[1] *if 8993 pos., sequencing for C or G change 83904[1] Per panel $600
+ $50*
PEO mtDNA point mutation Panel (3243, 3256, 5703) 83891[1], 83892[3], 83894[3], 83898[3], 8391226[1] Per panel $600
LHON mtDNA point mutation Panel (3460, 11778, 14484) 83891[1], 83892[3], 83894[3], 83898[3], 8391226[1] Per panel $600
Cardiomyopathy mtDNA point mutation Panel (3243, 3260, 3303, 4269, 4300, 8363, 9997) 83891[1], 83892[7], 83894[7], 83898[7], 8391226[1] Per panel $1,200
Mitochondrial Whole Genome Sequencing Contact Laboratory Whole Genome Contact Lab
Mitochondrial Enzymes (Respitarory chain enzymes) 82657[6], 84311[6], 8391226[1] 6-enzyme battery $550
Southern Blot for mtDNA deletions (Muscle) 83891[1], 83892[1], 83894[1], 83896[1], 83907[1], 8391226[1] Per test $495
Southern Blot for mtDNA deletions (Blood) 83891[1], 83892[1], 83894[1], 83896[1], 8391226[1] Per test $445
Quantitative PCR for depletion (Muscle) 83891[1], 83896[2], 83900[1], , 83907[1], 8391226[1] Per test $515
Coenzyme Q10 Muscle 82491[1], 8391226[1] Per test $250
Coenzyme Q10 Blood 82491[1], 8391226[1] Per test $125
Thymidine Phosphorylase (MNGIE) 83907[1], 84165[1], 8416526[1], 84311[1], 8391226[1] Per test $247
Glycogenoses Enzymes 82657[1], 84311[1], 8391226[1] Per enzyme $175
Carnitine palmitoyltransferase II (CPT II) enzyme 82658[1], 84311[1], 8391226[1] Per enzyme $175
Glycogenoses Enzymes Panel 3 enzymes (PGK, PGAM, LDH) 82657[3], 84311[3], 8391226[1] Per Panel $325
Glycogenoses Enzymes Panel 6 enzymes (PPL, PFK, PHK, PGK, PGAM, LDH) 82657[6], 84311[6], 8391226[1] Per Panel $550
McArdle’s (PPL) Single Mutation R49X or G204S 83891[1], 83892[1], 83894[1], 83898[1], 8391226[1] Per Test $300
McArdle’s (PPL) Mutations R49X and G204S 83891[1], 83892[2], 83894[2], 83898[2], 8391226[1] Combined Panel $450
Phosphofructokinase (PFK) Exon 5 mutation 83891[1], 83892[1], 83894[1], 83898[1], 8391226[1] Per Test $300
Carnitine palmitoyl transferase II (Ser113Leu mutation) 83891[1], 83892[1], 83894[1], 83898[1], 8391226[1] Per Test $300
Phosphoglycerate mutase (PGAM) Gene Sequencing 83891[1], 83892[2], 83894[1], 83898[3], 83904[3], 8391226[1] Per Test $600






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