Neuromuscular Genetic Testing

We provide targeted DNA sequencing allowing us to focus specific areas of interest at a reduced price and faster delivery time. Our laboratory’s technology can accommodate small blood sample sizes, making it viable alternative to a trip to the phlebotomist and reducing the impact of blood-drawing on patients’ health.

NEUROMUSCULAR

Genetic Testing - Cystic Fibrosis

NEXT GENERATION SEQUENCING – GERMLINE MUTATION

Our Neuromuscular Amplicon Sequencing Panel targets 144 genes associated with neuromuscular disease. The test is grouped into three subclasses of neuromuscular disorders: 1) movement disorders, 2) motor neuron disorders and 3) neuromuscular disorders. This assay is performed using genomic DNA isolated from human peripheral whole blood specimens.
The test is intended to identify the variants that are associated with neuromuscular disorders. The test is intended as a pre-symptomatic genetic test to determine whether an individual with a family history of a neuromuscular disease, but no current symptoms, has the gene alterations associated with the disease. The test can also be used for post-symptomatic genetic testing to confirm variants of association to neuromuscular disorders.

NEUROMUSCULAR PANEL GENE LIST:

AFG3L2
APTX
ATM
ATN1
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
ATXN8OS
CACNA1A
FXN
GCH1
HTT
KCNC3
PARK2
PARK7
PINK1
PNKD
POLG
PPP2R2B
PRKCG
PRRT2
SETX
SGCE
SIL1
SNCA
SPTBN2
TBP
THAP1
TOR1A
TTPA
ANG
BSCL2
C9ORF72
CYP7B1
FUS
OPTN
SBMA
SIL1
SMN1
SMN2
SOD1
SPG10
SPG11
SPG15
SPG17
SPG3
SPG31
SPG4
SPG5A
SPG6
SPG7
SPG8
TARDBP
UBE1
UBQLN2
VCP
ACTA1
ANO5
B3GALNT2
B3GNT1
BAG3
BIN1
CACNA1S
CAPN3
CAV3
CCDC78
CFL2
CHKB
CLCN1
CNBP
CNTN1
COL6A1
COL6A2
COL6A3
CRYAB
DAG1
DES
DMD
DMPK
DNAJB6
DNM2
DPM2
DYSF
EMD
FHL1
FKRP
FKTN
FLNC
FSHD
GNE
ISPD
ITGA7
KBTBD13
KCNJ2
KLHL40
KLHL9
LAMA2
LARGE
LDB3
LMNA
MATR3
MEGF10
MTM1
MYBPC3
MYH2
MYH7
MYOT
NEB
NTRK1
OPA1
OPMD
PLEC
POMGNT1
POMGNT2
POMT1
POMT2
PTRF
RYR1
SCN4A
SEPN1
SGC
SGCA
SGCB
SGCD
SGCG
SMCHD1
SYNE1
SYNE2
TCAP
TIA1
TMEM43
TMEM5
TNNT1
TPM2
TPM3
TRAPPC11
TRIM32
TTN
VCP
WNK1

All tests are performed in Ayass BioScience, LLC. Ayass BioScience, LLC (DBA Ayass Lung Clinic, PLLC) is a CLIA certified laboratory. If you have any questions about Genetic Testing Next Generation Sequencing at Ayass BioScience, LLC, please call today at 972-668-6005 or fill out our contact form on the bottom of this page. We will answer any question you might have.