Ataxia/Episodic Ataxia Disorders + mtDNA + SCA Repeat Expansion Analysis


Test Details
TEST CODE NGS431
TEST METHODOLOGY NGS; Repeat Primed-PCR
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 361
CPT CODE 81460, 81465, 81404 x1, 81405 x2, 81406 x2, 81407 x1, 81408 x1, 81479, 81401 x7
PRICE $2695
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait, and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. Inherited (genetic) forms of ataxia must be distinguished from the many acquired (non-genetic) causes of ataxia.

The genetic forms of ataxia are diagnosed by family history, physical examination, neuroimaging, and molecular genetic testing. The hereditary ataxias can be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked, or mitochondrial manner, and multiple genes are involved. Early-onset ataxias, under 20 years of age, tend to be of autosomal recessive inheritance (e.g. Friedreich’s ataxia) whereas the spinocerebellar ataxias (SCAs) are autosomal dominant and tend to present mostly after 20 years of age; although both recessive and dominant can occur at any age. Prevalence of the autosomal dominant cerebellar ataxias (ADCAs) is estimated to be approximately 1-5:100,000 in the population. Autosomal recessive types of hereditary ataxia account for approximately 3:100,000. The prevalence of genetic childhood ataxia varies from 0.1 to 10 cases per 100,000 people. Ataxias due to mitochondrial disease may be an under-diagnosed cause of ‘inherited’ ataxia, but the pattern of inheritance may be complex, including maternal transmission, AD and AR inheritance.

Clinical manifestations of hereditary ataxia in general are poor coordination of movement and a wide-based, uncoordinated, unsteady gait. Poor coordination of the limbs and of speech (dysarthria) are often present. Hereditary ataxia may result from one or any combination of: dysfunction of the cerebellum and its associated systems, lesions in the spinal cord, and/or peripheral sensory loss. The diagnosis of hereditary ataxia is based upon detection and neurologic examination of typical clinical signs and symptoms, a positive family history, and molecular analysis. Hereditary ataxias can be subdivided first by mode of inheritance, and secondarily by the gene in which the pathogenic variants occur.

Relevant Diseases
  • Ataxia/Episodic Ataxia Disorders; Spinocerebellar Ataxias

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
AAAS
AARS2
ABCB7
ABCC8
ABCD1
ABHD5
ACO2
ADCK3
ADSL
AFG3L2
AHI1
ALDH5A1
ALG6
AMACR
ANO10
AP3B2
AP3D1
APOPT1
APTX
ARCN1
ARL13B
ARL6
ARSA
ASL
ASS1
ATM
ATN1
ATP1A2
ATP1A3
ATP8A2
ATPAF2
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
AUH
B9D1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCKDHA
BCKDHB
BCS1L
BEAN1
BOLA3
BSCL2
BTD
C10ORF2
C12orf65
C19orf12
C5ORF42
CA8
CACNA1A
CACNA1G
CACNB4
CAMTA1
CASK
CC2D2A
CCDC28B
CCDC88C
CECR1
CEP290
CEP41
CHCHD10
CIT
CLCN2
CLN5
CLN6
CLN8
CLPP
COG4
COQ2
COX10
COX14
COX15
COX20
COX6B1
COX8A
CP
CPS1
CSPP1
CSTB
CTDP1
CTSD
CTSF
CYP27A1
DARS2
DBT
DCPS
DCX
DHFR
DKC1
DLAT
DLD
DNAJC12
DNAJC19
DNAJC3
DNAJC5
DNMT1
DPM1
DYRK1A
EEF2
EGR2
ELOVL4
ELOVL5
ERCC2
ERCC5
ERCC6
ERCC8
ETHE1
FA2H
FASTKD2
FBXL4
FGF12
FGF14
FLVCR1
FMR1
FOXRED1
FRRS1L
FTL
FXN
GABRB3
GAMT
GBA
GBA2
GCH1
GFAP
GJA1
GJB1
GJC2
GLB1
GMPPB
GOSR2
GPI
GPR56
GRID2
GRM1
GRN
GSS
HARS
HARS2
HCN1
HEPACAM
HEXB
HNRNPH2
HTR1A
HTRA1
HTT
INPP5E
ITM2B
ITPR1
KCNA1
KCNC1
KCNC3
KCND3
KCTD7
KIF1A
KIF1B
KIF1C
KIF5A
KIF7
LARP7
LARS2
LMNB1
LRPPRC
LYRM7
MAN2B1
MARS2
MBD5
MECP2
MED13L
MFSD2A
MFSD8
MICU1
MKKS
MKS1
MLC1
MMADHC
MME
MPV17
MPZ
MRE11A
MTFMT
MTPAP
MTTP
MVK
NAGLU
NANS
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF6
NDUFAlsF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEU1
NF2
NFIA
NOL3
NOP56
NPC1
NPC2
NPHP1
NUBPL
OFD1
OPA1
OPA3
OPHN1
OTC
PANK2
PAX6
PDHA1
PDHX
PDYN
PEX10
PEX2
PEX7
PGK1
PGM3
PHYH
PLA2G6
PLP1
PMM2
PMP22
PNKD
PNKP
PNPLA6
POLG
POLR3A
POLR3B
PPP2R2B
PPT1
PRICKLE1
PRICKLE2
PRKCG
PRNP
PRPS1
PRRT2
PRX
PSEN1
PTS
PYROXD1
RARS
RFT1
RNASEH1
ROGDI
RPGRIP1L
RRM2B
SACS
SAMD9L
SATB2
SCAF4
SCAF8
SCARB2
SCN1A
SCN8A
SCN9A
SCO1
SDHA
SDHAF1
SDHD
SETX
SIL1
SLC13A5
SLC16A2
SLC17A5
SLC19A2
SLC19A3
SLC1A3
SLC20A2
SLC2A1
SLC30A10
SLC39A14
SLC46A1
SLC52A2
SLC52A3
SLC6A1
SLC9A6
SMAD4
SNAP25
SNORD118
SOX10
SPG11
SPG7
SPR
SPTBN2
SUMF1
SUOX
SURF1
SYNE1
SYT14
TACO1
TBC1D24
TBP
TCN2
TCTN1
TCTN2
TCTN3
TDP1
TELO2
TGM6
TH
TMEM138
TMEM216
TMEM231
TMEM237
TMEM240
TMEM67
TMEM70
TPK1
TPP1
TRIM32
TRNT1
TSFM
TTBK2
TTC19
TTC8
TTR
TUBA1A
TUBB
TUBB4A
UBA5
UBE3A
UCHL1
UQCRQ
VAC14
VAMP1
VARS2
VLDLR
VRK1
WDPCP
WDR81
WFS1
WWOX
XPA
ZFYVE26
ZNF423
ZNF592

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