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NGS TESTING MENUS

Cardio-Pulmonary

Cardio Genomics Genes

ABCC9
ACTA2
ACTC1
ACTN2
ACVRL1
ADAMTS2
AKAP9
ALDH18A1
ALMS1
ALPK3
ANK2
ANKRD1
APOB
ATP6V0A2
ATP6V1E1
ATP7A
B3GALT6*
B3GAT3
B4GALT7
BAG3
BGN
BMPR2
BRAF
CACNA1C
CACNA2D1
CACNB2
CALM1^
CALM2
CALM3
CASQ2
CAV1
CAV3
CBS
CHRM2
CHST14
COL11A1
COL11A2
COL12A1
COL1A1
COL1A2
COL2A1
COL3A1
COL5A1
COL5A2
COL9A1
COL9A2
COL9A3
CRYAB
CSRP3
CTNNA3
DES
DMD
DOLK
DSC2
DSE
DSG2
DSP
DTNA
EFEMP2
EIF2AK4
ELN
EMD
ENG
EYA4
FBLN5
FBN1
FBN2
FHL1
FKBP14
FKRP*
FKTN
FLNA
FLNC
GAA
F9
GATA4
GATA5^
GATA6
GATAD1
GDF2
GJA5
GLA
GNB5
GPD1L
HCN4
HFE
HRAS*
ILK
JPH2
JUP
KCNA5
KCND3
KCNE1
KCNE1L
(KCNE5)
KCNE2
KCNE3
KCNH2
(HERG)
KCNJ2
KCNJ5
KCNJ8
KCNK3
KCNQ1
KRAS
LAMA4
LAMP2
LDB3
LDLR
LDLRAP1
LMNA
LOX
LRRC10
LTBP4
MAP2K1
MAP2K2
MAT2A
MED12
MFAP5
MIB1
MURC
MYBPC3
MYH11
MYH6
MYH7
MYL2
MYL3
MYL4
MYLK
MYLK2
MYOZ2
MYPN
NEBL
NEXN
NKX2-5
NOTCH1
NRAS
PCSK9
PDLIM3
PKP2
PLN
PLOD1
PPA2
PRDM16
PRDM5
PRKAG2
PRKG1
PTPN11
PYCR1
RAF1
RANGRF
RASA1
RBM20
RIN2
RIT1
RYR2
SCN10A
SCN1B^
SCN2B
SCN3B
SCN4B
SCN5A
SGCD
SHOC2
SKI
SLC2A10
SLC39A13
SMAD2
SMAD3
SMAD4
SMAD9
SNTA1
SOS1
TAZ^
TBX20^
TCAP
TECRL
TGFB2
TGFB3
TGFBR1
TGFBR2
TMEM43
TMPO
TNNC1
TNNI3
TNNT2
TNXB
TOR1AIP1
TPM1
TRDN
TRPM4
TTN
TTR
TXNRD2
VCL
ZNF469

 
Pulmonary Genes

CCDC39
CCDC40
CFTR
CHAT
CHRNA1
CHRNB1
CHRND
CHRNE
COLQ
CSF2RA
CSF2RB
DKC1
DNAAF1
DNAAF2
DNAH1
DNAH11
DNAH5
DNAI1
DNAI2
DNAL1 EDN3
EFEMP2
ELMOD2
ELN
FBLN5
FLCN
FOXF1
GAS8
GLRA1
HPS1
HPS4
ITGA3
LTBP4
MECP2
NAF1
NF1
NKX2-1
NME8
PARN
PHOX2B
PIH1D3#
RAPSN
RET
RSPH3
RSPH4A
RSPH9
RTEL1
SCN4A
SCNN1A
SCNN1B
SERPINA1
SFTPA1
SFTPA2
SFTPB
SFTPC
SLC34A2
SLC6A5
SLC7A7
SMPD1
STAT3
TERC
TERT
TINF2
TSC1
TSC2
ZEB2

  • To verify whether a genetic mutation causes the disease
  • To verify the risk of developing cardiovascular due to family history and preliminary symptoms
  • To verify whether an individual has inherited a condition from one of their parents (despite them not showing any symptoms).
  • To see if an individual will likely pass cardiovascular to their children.
  • Helps in early detection or likelihood of getting cardiovascular and aids in future disease management.
  • Offers a rapid approach to correct clinical diagnosis and early and personalized intervention.

Why Should You Consider Cardio Sequencing Panel? 

At least 25% of sudden cardiac arrests have a component of inheritance.

The sequencing panel may help Identify changes in hereditary cardiac genes. Knowing these specific mutations may create better patient outcomes by helping to monitor disease progression closely, creating therapies that work best for the patient, and giving patients the ability to make informed healthcare decisions regarding their health.

This comprehensive genetic test is affordable and accurate and may help future generations by outlining hereditary mutations.

Cabot Lab cardiac sequencing panel covers 23 different inherited cardiac disorders.

 

Why Should You Consider Pulmonary Testing? 

Genetic diagnostics are often the most efficient way to subtype hereditary pulmonary diseases, and they provide the necessary information to make confident individualized treatment and management decisions. Specifically, variation in the CFTR gene that causes cystic fibrosis is targeted in this category.

In addition to cystic fibrosis, determining the exact underlying genetic defect in any hereditary pulmonary disease heavily affects genetic counseling and risk assessment.

Identifying at-risk family members makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnostics can help in family planning.

Cancer Genomics (CGx)

Cardio Genomics Genes

MUTYH
PTEN
BMPR1A
ATM
POLE
CDK4
GJB2
GJB6
BRCA2
BLM
FBN1
GREM1
PALB2
CDH1
RAD51D
COL1A1
BRIP1
TP53
NF1
RAD51
BRCA1
SMAD4
STK11
POLD1
EPCAM
MSH2
BARD1
MSH6
CHEK2
MLH1
MITF
BAP1
KIT
TERT
APC
PMS2
NBN
CDKN2A

  • Improved accuracy in diagnosis and treatment planning
  • Identification of potential targeted therapies based on the specific genetic mutations present in the tumor
  • Identification of family members who may be at risk for developing cancer
  • Improved outcomes for patients by tailoring treatment to the individual genetic characteristics of their cancer

Cancer genomics testing is essential to help patients and doctors make more informed decisions about cancer treatment. By understanding the specific genetic mutations that are driving the growth of a tumor, doctors can tailor treatment plans to each patient. This can lead to better outcomes, fewer side effects, and a higher quality of life for cancer patients.

Cancer genomics testing is a powerful tool that can provide important information about the genetic characteristics of a patient’s cancer. This information can guide treatment decisions and identify family members at risk for developing cancer. If you have been diagnosed with cancer or have a family history, talk to your doctor to see if cancer genomics testing may be proper for you.

Comprehensive Eye Disorders

ALDH7A1
ATXN7
CACNA1A
CDH23
CDKL5
CFH
CHD2
CLRN1
CNGA1
CTSD
EYS
FTL
GABRG2
GJB2
GJB6
GPR98
GRIN2A
KCNQ2
MECP2
MTRNR1
MYO15A
MYO7A
OTOF
PAX2
PCDH15
PCDH19
PDE6A
PDE6B
POLG
PRPF31
PRRT2
RDH12
RP2
RPGR
SCN1A
SCN1B
SCN2A
SCN8A
SLC26A4
SLC2A1
SLC9A6
STXBP1
SYNGAP1
TCF4
TGFBI
TMC1
TMPRSS3
TPP1
TSC1
TSC2
USH1C
USH1G
USH2A
WFS1
ZEB2
HSF4
BFSP2
GALK1
BFSP1
CRYAA
CRYAB
CRYGC
FOXE3
BEST1
NR2E3
NRL
RHO
RP1
RPE65
CAV1
CAV2
SIX1
SIX6
CDKN2B-AS
TMCO1
CYP1B1
LTBP2
PITX2
PAX6
FOXC1
OPN1LW
OPN1MW

  • Identify the underlying genetic causes of eye disorders 
  • Differentiate the individual’s disorder from other disorders, which present with inherited eye disorders.
  • Identifying one or more causative variants can give the physician and family important information regarding prognosis, treatment, and recurrence risk in future offspring. 
  • It also provides other family members the option for variant-specific carrier testing and genetic counseling.

Genetic studies have established a genetic cause for eye disorders in 10-39% of patients (1, 4).

However, when analyzing more extensive gene lists, a genetic cause may be identified in 58-79% of individuals with congenital non-syndromic eye disorders (2, 3, 5). Hence, this test is designed to detect variants in most genes associated with non-syndromic and common forms of syndromic genetic eye disorders.

Hereditary Neurology

ADNP
AFF2
ALDH7A1
ANG
APTX
ARX
ASPA
ASXL1
ATN1
ATP1A2
ATP7B
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
ATXN8OS
BCL11A
BSCL2
C12orf4
CACNA1A
CACNA1C
CC2D1A
CDKL5
CHD2
CNOT3
CNTN6
COL4A1
COL4A3BP
CSNK2A1
CSTB
CTNND2
DHCR7
DPYD
EGR2
EHMT1
EN2
EZH2
FBXO11
FMR1
FOXG1
FOXP1
FTSJ1
FXN
GABRG2
GAMT
GARS
GATM
GBA
GCH1
GRIN2A
GRN
HEXA
HFE
HSPB1
HTT
IKBKAP
KCNQ2
KDM5C
L1CAM
LRRK2
MAPT
MBOAT7
MECP2
MED12
MTHFR
MTM1
NDP
NDUFA1
NLGN3
NLGN4X
NOTCH3
NSD1
NTRK1
NTRK2
PABPN1
PCDH19
PDGFB
PDHA1
PIK3CA
PINK1
PMP22
PNKD
POLG
PPP2R2B
PRRT2
PSEN1
PTEN
REEP1
SCN1A
SCN1B
SCN2A
SCN8A
SCO2
SGCE
SLC16A2
SLC2A1
SLC6A8
SLC9A6
SMN1
SMN2
SOD1
SPG11
STXBP1
SYNGAP1
TARDBP
TBP
TCF4
TH
THAP1
TOR1A
TPP1
TSC1
TSC2
TTR
UBA1
ZEB2
ZNF41
ACADM
APOE
APP
ARSA
ATM
BCKDHA
BCKDHB
BCS1L
BLM
C10orf2
COQ2
COX10
DGUOK
ERBB4
FANCC
FUS
G6PC
GAA
GALT
GBE1
GJB1
HBB
MCOLN1
MFN2
MPV17
MPZ
NPC1
OPA1
OPTN
PAH
PDSS2
PLCG2
POLG2
PRNP
PSEN2
RRM2B
SCO1
SETX
SLC25A4
SPAST
SPTLC1
SUCLA2
SUCLG1
TAZ
TK2
TYMP

  • It’s the most efficient way to subtype neurological diseases and provides the necessary information to make confident individualized treatment and management decisions.
  • Finding a genetic cause may end a long diagnostic odyssey; a definite name may be relieving in many cases.
  • Genetic diagnosis in neurological diseases has significant prognostic value, as disease progression can often be evaluated based on the underlying genetic defect.

Almost 99% of the general public doesn’t even know they have a family link to a neurological disease that might be manifested in the future. This predisposition to neurological disease should be explored at an early stage. The encrypted malfunctional genes on the subject’s genome serve as a benchmark for a future treatment plan, further diagnosis, and delay the onset of neurological conditions. Many risk factor genes are clinically proven to induce neurological conditions; the only way to rule out is to sequence the genes and rule out the genetic risk for the most complex disease on the planet.

Primary Immunodeficiency

BLM
BRCA2
CFTR
F9
F5
FANCC
G6PD
G6PC
JAK2
MSH6
MYD88
PALB2
NRAS
PMS2
PLCG2
PTEN
RUNX1
MPL
TERT
F13B
F7
FGB
STAT1
STAT3
IFNGR1
IFNGR2
RAG1
RAG2
SPINK5
BTK
ATM
RFXANK
PTPRC
NCF1
TNFRSF13B
ITGB2
MEFV
CYBB
JAGN1
STK4
CYBA
NFKB2
CDX1
PIK3CD
MSH2
VPS13B
BRCA1

  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional health-related symptoms
  • Assist in modifying lifestyle changes, including diet and exercise
  • Result in more personalized symptom management
  • Inform family members about their risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning

People with immunodeficiency tend to get sick more often with ear infections, sinus infections, pneumonia, and skin infections. They also have more prolonged infections that are hard to treat with regular antibiotics and may result in hospitalization. Infants may have poor weight gain and digestive problems like diarrhea. 

If you or have a family history of frequent infections, fevers, or rash, particularly if infections do not completely clear up or keep coming back, require hospitalization or IV antibiotics, or are caused by an uncommon organism, primary immunodeficiency testing may be beneficial. 

Thyroid Genetic Disease

PIK3CA
TRH
THRB
CTNNB1
KRAS
DUOX1
SLC5A5
CACNA1A
PRKCG
HAMP
SLC40A1
TPO
PAX8
GLIS3
FOXE1
SECISBP2
GNAQ
PLCG2
TGFBI
TG
THRA
TP53
TSHB
NRAS
ATP1A2
HRAS
TTR
IYD
HFE
ESR1
PLN
TFR2
SLC26A4
TSHR
NKX2-1
MECP2
IRAK1
G6PD
SLC16A2
IGSF1
TBL1X
IRS4
CST3
CST1
CSTB
DUOX2

  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional health-related symptoms
  • Assist in modifying lifestyle changes, including diet and exercise
  • Result in more personalized symptom management
  • Inform family members about their risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning

5 out of every 100 people are either carriers of thyroid dysfunction genes or living with thyroid dysfunction signaling waiting for the inception of genetically predisposed disease/s (1 and 2).

There are several reasons for undermining the underlying familial thyroid disease and the

associated signals. Number one is lower penetrance (awareness per se) of clinical

genome-wide association studies on genetically predisposed diseases and genes.

Secondly, a blood test with Hyper/hypothyroidism is under looked prescribing medications for life without even trying to verify whether the disease signature is due to an inherited disease causing/pathogenic variants involved in the dysfunction of the thyroid gland and or an early warning/signal for a disease yet to be manifested in the future. The only way to find out is by sequencing the variants that the patient has inherited.

Pharmacogenomics (PGx)

ABCB1
ABCC4
ABCG2
ACE
ADD1
ADRB2
ALDH2
APOE
ATIC
BCHE
CACNA1S
CES1
CFTR
CHRNA5
COMT
CRHR2
CYP1A2
CYP2A6
CYP2B6
CYP2C
CYP2C19
CYP2C8
CYP2C9
CYP2D6
CYP3A4
CYP3A5
CYP4F2
DPYD
DRD2
ERCC1
F2
F5
G6PD
GNB3
GSTP1
HLA-A
HLA-B
HTR1A
HTR2A
HTR2C
IFNL3
FNL4
ITPA
KIF6
LTC4S
MC4R
MTHFR
MT-RNR1
MTRR
NAT2
NEDD4L
NQO1
NUDT15
OPRM1
POLG
PTGFR
PTGS1
RYR1
SCN1A
SLC19A1
SLCO1B1
TNF
TPMT
TYMS
UGT1A1
UGT1A4
VKORC1

  • Improved medication safety
  • Increased medication effectiveness 
  • Reduced healthcare costs
  • Improved patient satisfaction

There are many reasons why you might consider PGx testing. Some of the most common reasons include:

  • You are taking a medication with a known risk of side effects.
  • You have a family history of a genetic condition that can affect your medication response.
  • You have had a bad reaction to medication in the past.
  • You are pregnant or breastfeeding.
  • You are elderly.
  • You have a chronic health condition.