Comprehensive Dystonia + mtDNA + HTT Repeat Expansion Analysis


Test Details
TEST CODE NGS409
TEST METHODOLOGY NGS; Repeat Primed-PCR
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 192
CPT CODE 81460, 81465, 81479 x2, 81404 x2, 81405 x2, 81406
PRICE $2195
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Dystonia is a neurological movement disorder. It is characterized by persistent or intermittent muscle contractions causing abnormal, often repetitive movements, or body postures. The movements are usually patterned and twisting, and may resemble a tremor. Dystonia can affect one part of the body or can be generalized across multiple muscle groups. There are multiple forms of dystonia, and many conditions may include dystonia as a symptom.

Dystonia can be classified as ‘isolated’ if dystonia is the only motor feature other than tremor, ‘combined’ if dystonia occurs with another movement disorder (myoclonus, or parkinsonism), or ‘complex’ if dystonia is one of other neurologic or systemic manifestations. Forms of dystonia without neurodegeneration usually reach a plateau with stable findings, whereas those associated with neuronal loss progressively worsen over time.

The mode of inheritance can be autosomal dominant, autosomal recessive, X-linked, or mitochondrial. This next-generation sequencing test is designed to detect mutations in the coding region of several genes associated with Dystonia or syndromes with dystonic features.


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
AARS
AARS2
ABCD1
ACOX1
ACTB
ADAR
ADCY5
ADD3
ADH1C
AFG3L2
ALDH6A1
ALS2
AP1S2
AP3B2
AP3D1
AP4B1
APTX
ARSA
ARX
ATM
ATP13A2
ATP1A2
ATP1A3
ATP7B
ATXN2
ATXN3
AUH
B4GALNT1
BCL11B
BCS1L
BICD2
BSCL2
C19orf12
CACNA1A
CACNA1B
CARS2
CHMP2B
CIT
COASY
COL4A1
COL6A3
COQ9
COX10
COX15
CP
CYP27A1
DCAF17
DDC
DLAT
DLD
DNAJC12
DNAJC6
DPYS
DRD5
DYNC1H1
EARS2
ECHS1
ERCC6
ERCC8
FA2H
FASTKD2
FBXL4
FBXO7
FOXG1
FOXRED1
FRRS1L
FTL
GAMT
GBA
GCDH
GCH1
GJA1
GJC2
GLB1
GM2A
GNAO1
GRIK2
GTF2H5
HNRNPH2
HPRT1
HTRA2
HTT
IFIH1
KCNMA1
KCNQ2
KMT2B
L2HGDH
MAPT
MARS2
MAT1A
MCOLN1
MDH2
MECP2
MECR
MICU1
MMADHC
MPV17
MRE11A
MTO1
NDUFA10
NDUFA12
NDUFA2
NDUFA9
NDUFAF2
NDUFAF6
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NPC1
NPC2
OCLN
PAH
PANK2
PARK2
PDGFB
PDGFRB
PDHA1
PDHX
PINK1
PLA2G6
PLEKHG2
PLP1
PNKD
PNKP
PNPT1
POLR3A
PPP2R2B
PRKCG
PRKRA
PRRT2
PSEN1
PSMB8
PTEN
PTS
QDPR
RLIM
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
SCP2
SDHA
SDHAF1
SDHD
SERAC1
SETX
SGCE
SLC19A3
SLC20A2
SLC2A1
SLC30A10
SLC39A14
SLC46A1
SLC6A3
SLC6A8
SNCA
SNORD118
SPR
SQSTM1
SUCLA2
SUOX
SURF1
SYNJ1
TAF1
TBC1D24
TBP
TELO2
TH
THAP1
TIMM8A
TOR1A
TPI1
TPK1
TREM2
TREX1
TSEN2
TSFM
TTC19
TUBB4A
TYROBP
UBA5
UBQLN2
UQCRQ
VAC14
VAMP1
VCP
VPS37A
WDR45
ZC4H2
ZNF592

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