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HyperCKemia and rhabdomyolysis panel [47 genes]
Persistent elevation in creatine phosphokinase (CPK) can be a marker of mild muscular disease, or its early stages, and represents a frequent cause of referral to a neuromuscular specialist. On the other hand, rhabdomyolisis is the result of sudden tearing of muscle fibers and the release of cell content into the bloodstream, generating an increase in CPK of at least 10 fold, to later decrease rapidly. This process can be accompanied by the secretion of myoglobin in urine, giving it a dark color tone. This panel includes genes related to structural-type muscular disease as well as metabolic-type muscular diseases that may present like this.
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
Solicita información de
HyperCKemia and rhabdomyolysis panel
Turnaround time (TAT): 6 weeks
Ref. S-202008642
- ACAD9
- ACADM
- ACADVL
- AGK
- AGL
- ANO5
- C1QBP
- CACNA1S
- CAPN3
- CAV3
- CAVIN1
- COL4A1
- CPT2
- DMD
- DYSF
- ETFA
- ETFB
- FLAD1
- GAA
- GBE1
- GMPPB
- GYG1
- GYS1
- HADHA
- HADHB
- ISCU
- LDHA
- LPIN1
- PFKM
- PGAM2
- PGK1
- PGM1
- PHKA1
- POLG
- POLG2
- PYGM
- RBCK1
- RRM2B
- RYR1
- SCN4A
- SLC22A5
- SLC25A20
- SUCLA2
- TANGO2
- TK2
- TWNK
- TYMP
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10:118-26.
- Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000; 22:87-97.
- van Adel BA, Tarnopolsky MA. Metabolic myopathies: update 2009. J Clin Neuromuscul Dis 2009; 10:97-121.