Comprehensive Cardiomyopathy + mtDNA


Test Details
TEST CODE NGS363
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 483
CPT CODE 81439, 81460, 81465
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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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
ABCA1
ABCC9
ABCD4
ABCG5
ABCG8
ACADS
ACADVL
ACTC1
ACTN2
ACTN4
ADAM17
ADAMTS10
ADD1
AFF4
AGT
AGTR1
AKT1
ALG10
ALMS1
ALX3
AMER1
ANKS6
ANTXR1
APOB
ARHGAP31
ARL2BP
ARL6
ARMC5
ASCC1
ASXL1
ATP1B1
ATP6V1A
ATP6V1E1
AVPR2
B3GALTL
B3GAT3
BAG3
BANF1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BGN
BICC1
BMP2
BMPR2
BRAF
BRAT1
BRCA2
BVES
C11orf73
C1S
C3
CACNA1D
CALR
CALR3
CASQ2
CAV1
CAV3
CCBE1
CCDC103
CCDC114
CCDC151
CCDC174
CCDC28B
CCDC41
CD46
CD55
CD96
CDK13
CENPE
CENPF
CEP120
CEP19
CEP290
CEP57
CFB
CFH
CFHR1
CFHR3
CFI
CFTR
CHRM3
CHST3
CKAP2L
CLDN10
COA6
COL4A3
COL4A4
COX15
CPT1A
CPT2
CRB2
CRYAB
CSRP3
CTC1
CTCF
CTLA4
CTNNA3
CUL3
CYP11B1
CYP11B2
CYP3A5
CYP4F22
DCAF8
DCHS1
DDX11
DDX58
DDX59
DES
DIS3L2
DLL4
DMD
DNAAF3
DNAI1
DNAJC19
DNASE1
DPH1
DPP6
DSC2
DSE
DSG1
DSG2
DSP
DTNA
DVL3
DYNC2H1
DYNC2LI1
DYRK1B
DYX1C1
DZIP1L
ECE1
EDN1
EDNRA
EED
EFTUD2
EGFR
EIF2AK4
ELAC2
ELMO2
EMD
EOGT
EPG5
EPHB4
EPHX2
EPOR
ESCO2
ESR1
EVC
EVC2
EYA4
F13A1
F2
F5
FADD
FAH
FAM58A
FANCC
FANCD2
FANCE
FANCI
FANCL
FAT4
FCGR2A
FCGR2B
FGA
FGF23
FGFR1
FGFR2
FGFR3
FHL1
FIBP
FKTN
FLAD1
FLNB
FMO3
FN1
FOXC1
FOXC2
FTO
FXN
GALNT3
GATAD1
GBE1
GHR
GJA1
GJA5
GLA
GLIS3
GNAS
GNB3
GPX4
GUCY1A3
GYG1
GYS1
H19
HAAO
HABP2
HAMP
HBB
HES7
HFE
HFE2
HGD
HIBCH
HLA-B
HNRNPK
HPGD
HPS1
HSD11B2
HYLS1
IFNG
IFT122
IFT43
IGF2
IGFBP7
INVS
IRX5
ITGA7
ITIH4
JAK2
JAM3
JPH2
JUP
KAT6A
KAT6B
KCNA5
KCNH1
KCNJ2
KCNK3
KCNMB1
KCTD1
KIAA0586
KL
KLF1
KLHL3
KRAS
KYNU
LAMA4
LAMP2
LBR
LDB3
LDLR
LIFR
LIMS2
LMNA
LONP1
LPL
LRP2
LRP5
LRP6
LTBP2
LTBP3
LZTFL1
LZTR1
MAF
MASP1
MAX
MEF2A
MEGF8
MEIS2
MEOX1
MFAP5
MGP
MIB1
MKKS
MKS1
MLYCD
MMACHC
MMP21
MTO1
MTOR
MUC1
MUC5B
MYBPC3
MYCN
MYH6
MYH7
MYH9
MYL2
MYL3
MYL4
MYLK2
MYOM1
MYOZ2
MYPN
NEK1
NEK8
NEK9
NEXN
NKX2-1
NME1
NME8
NONO
NOS2
NOTCH2
NPPA
NR3C1
NRAS
NSMCE2
NT5E
NUP155
OBFC1
OSGEP
PAM16
PBX1
PCCA
PCCB
PDE3A
PDE4D
PDGFRA
PET100
PIEZO1
PKD1L1
PKP2
PLEC
PLIN1
PLN
PNP
POGZ
POLR1A
PPA2
PPP1R17
PRDM16
PRDM6
PRG4
PRKAG2
PRKAR1A
PRKCSH
PRKD1
PROC
PROS1
PSEN1
PSEN2
PTCH2
PTF1A
PTGIS
PTPN11
PTPN14
PTPN22
PUF60
PYROXD1
RAB23
RAB3GAP2
RAC1
RAD51C
RAF1
RARB
RASA1
RBBP8
RBCK1
RBM20
RBM8A
RBP4
RBPJ
REN
RERE
RGS5
RIT1
RNF125
RPL11
RPL15
RPL26
RPL27
RPL5
RPS17
RPS26
RYR2
SALL1
SALL4
SAMD9
SBDS
SCN5A
SDHA
SELE
SERPINA6
SERPINC1
SERPIND1
SF3B4
SFTPA1
SFTPA2
SFTPB
SGCD
SGOL1
SH2B3
SH3PXD2B
SKIV2L
SLC19A2
SLC22A5
SLC25A20
SLC25A26
SLC25A4
SLC26A3
SLC30A9
SLC40A1
SLC5A2
SMAD9
SMARCAL1
SMG9
SMOC1
SNIP1
SOS1
SOS2
SOX2
SOX9
SP110
SPECC1L
SPEG
SPRY2
STAMBP
STAT1
STRA6
SUFU
SYNE2
TAF2
TANGO2
TAPT1
TAZ
TBX20
TBX3
TCAP
TERT
TF
TFAP2B
TFR2
TGDS
TGFB3
THBD
THOC6
THPO
TIMMDC1
TMCO1
TMEM126B
TMEM127
TMEM43
TMEM67
TNNC1
TNNI3
TNNI3K
TNNT2
TP63
TPM1
TRAIP
TRDN
TRIM32
TRIP4
TRMT10C
TSPYL1
TTC37
TTC7A
TTC8
TTN
TTR
TWIST1
TXNL4A
UBR1
UMPS
USP18
VCL
VCP
VHL
VMA21
VPS33A
WDPCP
WDR60
WFS1
WNK4
WNT3
WNT4
WNT5A
WT1
XK
XPNPEP3
XRCC2
XRCC4
XYLT1
XYLT2
ZNF469
ZNF687

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