Comprehensive Leukodystrophy/Leukoencephalopathy + mtDNA


Test Details
TEST CODE NGS372
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 121
CPT CODE 81460,81465, 81405 x2, 81406 x3, 81479
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

The term leukodystrophy, as well as associated terms such as dysmyelination, demyelination, and leukoencephalopathy, are applied to a broad group of disorders called leukodystrophies.

Leukodystrophies are heritable myelin disorders affecting the white matter of the central nervous system with or without peripheral nervous system myelin involvement. Involvement of the white matter tracts almost universally leads to motor involvement that manifests as hypotonia in early childhood and progresses to spasticity over time. This may lead to variable motor impairment, from mild spastic diplegia to severe spastic quadriplegia that limits purposeful movement. In addition, motor dysfunction is likely to significantly impair vital functions including swallowing, chewing, and (in some cases) respiration. Other findings that vary by disorder include extrapyramidal movement disorders (e.g., dystonia and/or dyskinesias), ataxia, seizures, and delay in cognitive development or change in cognitive function over time.

Leukodystrophies with an identified genetic cause may be inherited in an autosomal dominant manner, an autosomal recessive manner, or an X-linked recessive manner.

Relevant Diseases
  • Comprehensive Leukodystrophy / Leukoencephalopathy

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
ABAT
ABCD1
ACOX1
ADAR
ADK
AIMP1
ALDH3A2
APOPT1
ARCN1
ARSA
ASPA
ASXL2
AUH
B3GALNT2
BCL11B
CCDC88A
CLCN2
CLN6
COL4A1
COX15
CSF1R
CTNS
CYP27A1
DARS
DARS2
EARS2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
FA2H
FAM126A
FBXL4
FKRP
GALC
GFAP
GJC2
GPR56
HEPACAM
HSPD1
HTRA1
ITPA
KCNT1
L2HGDH
LMNB1
MARS2
MLC1
MLYCD
MPV17
MRPS22
MTFMT
MTTP
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF6
NDUFAlsF5
NDUFB3
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NOTCH3
NUBPL
OMG
PAH
PC
PHGDH
PLEKHG2
PLP1
POLG
POLR3A
POLR3B
PRPS1
PSAP
PTEN
PUS3
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
SCP2
SDHA
SDHAF1
SDHB
SLC16A2
SLC1A2
SLC1A4
SLC25A12
SLC6A9
SNORD118
SNRPB
SON
SOX10
STXBP1
TACO1
TARS2
TBCD
TMTC3
TREM2
TREX1
TUBB4A
TUFM
TYMP
TYROBP
VARS2
VPS33A

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