Spastic Paraplegia + mtDNA


Test Details
TEST CODE NGS337
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 382
CPT CODE 81460, 81465, 81404, 81405, 81406 x3, 81407, 81479
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance The hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness occurring in variable proportion. When symptoms begin after childhood, they usually progress slowly and steadily. When symptoms begin in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy. HSP is classified as uncomplicated if neurologic impairment is limited to lower extremity spastic weakness, hypertonic urinary bladder disturbance, and mild diminution of lower extremity vibration sensation. HSP is classified as complicated if the impairment present in uncomplicated HSP is accompanied by other systemic or neurologic abnormalities such as ataxia, seizures, cognitive impairment, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy (in the absence of other causes for these additional features). Given the array of inheritance patterns (Autosomal recessive, X-linked, Autosomal dominant), a careful family history is important, particularly when interpreting genetic testing results.

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
AASS
ABCD1
ABHD12
ACOX1
ACP5
ACTB
ADSL
AFG3L2
AIMP1
ALDH18A1
ALDH3A2
ALS2
AMACR
AMPD2
ANKLE2
AP1S2
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APOA1BP
ARL6IP1
ARNT2
ARSA
ARX
ASNS
ASPA
ASXL1
ATL1
ATP13A2
ATP6AP2
ATRX
AUH
B3GALT6
B4GALNT1
BCAP31
BCOR
BCS1L
BOLA3
BSCL2
BUB1B
C11orf73
C12orf65
C19orf12
CACNA1D
CACNA1G
CAPN1
CASK
CAV1
CCDC88C
CCT5
CD59
CEP120
CFH
CFHR1
CFHR3
CHMP1A
CIT
CLP1
CLPB
CLPP
COASY
COG2
COL4A2
COX10
COX15
CPT1C
CSF1R
CTC1
CTNNB1
CTSD
CYB5R3
CYP27A1
CYP2U1
CYP7B1
DARS
DARS2
DCTN1
DDHD1
DDHD2
DDX3X
DHCR24
DPH1
DYNC1H1
EARS2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ELP2
EML1
ENTPD1
ERLIN1
ERLIN2
ESCO2
EVC
EVC2
EXOSC3
EXOSC8
FA2H
FAR1
FARS2
FBXO7
FGFR1
FLNA
FOXG1
FOXRED1
FTL
FTO
FUCA1
GAD1
GALC
GAN
GBA
GBA2
GBE1
GCDH
GFAP
GFM1
GJA1
GJC2
GLB1
GLRX5
GLYCTK
GM2A
GNAO1
GPT2
GPX4
GRM1
GSS
GTF2E2
GUCY1A3
H19
HACE1
HARS2
HLA-DQB1
HLA-DRB1
HPRT1
HSD17B4
HSPB3
HSPD1
HTRA1
HTT
HYLS1
IBA57
IFIH1
IKBKG
ISCA2
JAM3
KATNB1
KCNA1
KCNJ6
KCNQ2
KCNT1
KDM5C
KIAA0196
KIAA1033
KIAA2022
KIDINS220
KIF1A
KIF1C
KIF2A
KIF5A
KIF5C
KLC2
L1CAM
L2HGDH
LAGE3
LAMB1
LARS2
LIAS
LIPT1
LIPT2
LMNB1
LRP4
LYRM7
MAG
MAN2B1
MARS2
MCOLN1
MECP2
MECR
MED17
MFF
MFSD2A
MLC1
MOCS1
MOCS2
MRE11A
MRPS22
MRPS34
MTPAP
NACC1
NADK2
NALCN
NARS2
NDE1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NIPA1
NKX2-1
NPC1
NPC2
NSUN2
NT5C2
NUBPL
NUP62
NUS1
OBFC1
OPA3
OSGEP
PAFAH1B1
PANK2
PCLO
PDCD1
PDGFRA
PDHX
PEX16
PEX7
PGAP1
PHGDH
PIEZO2
PIGA
PIGN
PLA2G6
PLCB1
PLG
PLP1
PMPCA
PNP
PNPLA6
PNPLA8
POLR1C
POLR3A
POLR3B
PPP3CA
PRDM8
PRF1
PRNP
PROC
PSAP
PSEN1
PYCR2
RAB18
RAB27A
RAB3GAP1
RAB3GAP2
RARS
RARS2
REEP1
REEP2
RFT1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF113A
RPIA
RTN2
SACS
SAMD9
SAMHD1
SCN2A
SCP2
SCYL1
SDHA
SDHAF1
SDHD
SEPSECS
SLC16A2
SLC19A3
SLC1A2
SLC1A4
SLC20A2
SLC25A12
SLC25A15
SLC25A22
SLC2A1
SLC30A10
SLC33A1
SLC39A14
SLC4A1
SLC6A8
SMG9
SMPD1
SNX14
SOD1
SOX10
SOX2
SPAST
SPATA5
SPG11
SPG20
SPG21
SPG7
SPTAN1
SPTBN2
ST3GAL5
STAMBP
STUB1
STXBP1
SUCLA2
SUMF1
TAF1
TAF2
TANGO2
TARDBP
TBC1D20
TBCD
TBCE
TCIRG1
TCTN2
TECPR2
TELO2
TFG
TIMM8A
TIMMDC1
TMEM126B
TNFSF11
TP53RK
TPI1
TRAPPC11
TREM2
TREX1
TRMT5
TRPM7
TSEN15
TSPYL1
TTC19
TTR
TUBA1A
TUBB3
TUBB4A
TUBG1
TWIST1
TXN2
TYROBP
UBQLN2
UBTF
UCHL1
UNC80
VAMP1
VPS11
VPS13A
VPS13C
VPS37A
VPS53
VWA3B
WDR45
WDR62
WDR73
WWOX
XPA
XPR1
ZFYVE26
ZFYVE27
ZNF335

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