Comprehensive Cardiomyopathy + mtDNA


Test Details
TEST CODE NGS363
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 127
CPT CODE 81439, 81460, 81465
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

Order Kit


Clinical Information
Clinical Significance

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased left ventricle wall thickness. The prevalence of unexplained LVH in the general population is estimated at 1:500, predicting approximately 600,000 persons with HCM in the USA. As such, HCM is one of the most common monogenic cardiovascular disorders. Familial HCM caused by sarcomere gene mutations is inherited in an autosomal dominant manner.

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Multiple well-designed epidemiologic studies have shown an HCM prevalence of approximately 1:500. Regardless of whether a DCM-causing mutation has been identified, evaluation of first-degree relatives of a proband with idiopathic dilated cardiomyopathy by echocardiography and electrocardiography (ECG) has shown that approximately 20%-35% of probands will have familial disease.

Relevant Diseases
  • Comprehensive Cardiomyopathies

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
ABCC9
ACADS
ACADVL
ACTC1
ACTN2
ARL6
BAG3
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BMP2
BMPR2
BRAF
CALR3
CASQ2
CAV1
CAV3
CCDC28B
CEP290
COX15
CPT1A
CPT2
CRYAB
CSRP3
DES
DMD
DNAJC19
DSC2
DSG2
DSP
DTNA
EIF2AK4
EMD
EYA4
FAH
FGA
FHL1
FKTN
FLAD1
FXN
GATAD1
GBE1
GJA1
GLA
GYG1
GYS1
HAMP
HFE
HFE2
ITGA7
JPH2
JUP
KCNJ2
KRAS
LAMP2
LDB3
LMNA
MKKS
MKS1
MLYCD
MMACHC
MTO1
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOM1
MYOZ2
MYPN
NEXN
NPPA
NRAS
NSMCE2
PKP2
PLEC
PLN
PRDM16
PRKAG2
PSEN1
PSEN2
PTPN11
PYROXD1
RAD51C
RAF1
RBCK1
RBM20
RIT1
RYR2
SCN5A
SDHA
SGCD
SLC19A2
SLC22A5
SLC25A20
SLC25A4
SLC40A1
SMAD9
SOS1
SPEG
SYNE2
TAZ
TBX20
TCAP
TFR2
TGFB3
TMEM43
TMEM67
TNNC1
TNNI3
TNNT2
TPM1
TRIM32
TTC8
TTN
TTR
VCL
VCP
VPS33A
WDPCP
WFS1

Back to Test Directory