Nonsyndromic Intellectual Disability


Test Details
TEST CODE NGS349
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 238
CPT CODE 81479, 81406, 81470
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Intellectual disability (ID) is a neurodevelopmental disorder characterized by impaired cognitive functions, significant below-average intellectual ability, and functional limitations in adaptive behavior with onset prior to the age of 18 years. ID is affecting 1-3% of the general population, and 2-3% of Americans are diagnosed with ID.

Causes of ID can be contributed by both environmental (non-syndromic) and genetic factors (syndromic). Environmental factors include intoxication during pregnancy, viral infections, premature birth, complications during birth, malnutrition, childhood diseases, and metabolic disorders which are responsible for damage of the nervous system.

Relevant Diseases
  • Intellectual disability, nonsyndromic

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
ACADM
ACADS
ACADSB
ACAT1
ACSL4
ACY1
ADSL
AFF2
AIMP1
AIP
ALDH5A1
ALDH7A1
ALG6
AMT
ANK3
ARFGEF2
ARG1
ARHGEF6
ARHGEF9
ASPA
ASS1
ATP1A2
ATP5A1
ATP6AP2
AUH
BCL11B
C12orf65
C19orf12
CA5A
CACNA1A
CACNG2
CARS2
CASC5
CASK
CC2D1A
CCDC88C
CDC45
CDH15
CDK5RAP2
CERS1
CHD2
CHRNA4
CNKSR2
COASY
CPS1
CPT2
CRADD
CRBN
CSTB
CTH
CTNNB1
DARS
DBT
DEAF1
DEPDC5
DHFR
DLAT
DLD
DLG3
DNAJC12
DNAJC6
DNM1
DPYS
DYNC1H1
EDC3
EPB41L1
EPM2A
ERCC6
ERMARD
ETHE1
EXOSC3
FAM126A
FARS2
FASTKD2
FGF14
FKTN
FOLR1
FOXP1
FOXP2
FRMPD4
FTCD
FTSJ1
GABRA1
GABRB3
GAD1
GALC
GCDH
GCH1
GCSH
GDI1
GFAP
GFM1
GJC2
GLDC
GLUD1
GNAO1
GNAQ
GNB5
GPT2
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GTPBP3
GUF1
HADH
HCFC1
HCN1
HECW2
HELLS
HEPACAM
HERC2
HEXB
HPD
HSPD1
IGF1R
IL1RAPL1
IMPA1
INS
IQSEC2
ITGA7
ITPA
KATNAL2
KCNB1
KCNC3
KCNJ2
KCNQ2
KCNT1
KCTD7
KIAA2022
KIF1A
KIF2A
KIF4A
L2HGDH
LAMA2
LAMB1
LAMC3
LYRM7
MAOA
MARS2
MAT1A
MBOAT7
MCCC1
MCPH1
MED23
MFSD2A
MFSD8
MICU1
MID2
MLC1
MLYCD
MMADHC
MOCS2
MPC1
MPDZ
MRPL3
NAGS
NARS2
NAXE
NDST1
NECAP1
NFIA
NKAIN2
NLGN4X
NT5C2
OTC
PAFAH1B1
PAH
PALB2
PCDH19
PDP1
PEPD
PGAP1
PGAP2
PLA2G6
PLCB1
PLP1
POLA1
PRSS12
PSPH
PTCHD1
PTS
PUS3
PYROXD1
RAB39B
RARS
RELN
RNASEH1
RNF135
RPS6KA3
SASS6
SCN1A
SCN2A
SCN8A
SCN9A
SEPSECS
SHH
SHROOM4
SIX3
SLC13A5
SLC16A1
SLC19A3
SLC20A2
SLC25A1
SLC25A12
SLC25A22
SLC2A1
SLC39A14
SLC6A1
SLC9A9
SPAST
SPR
SPTAN1
ST3GAL3
STIL
STX1B
STXBP1
SYNGAP1
SYP
SZT2
TBC1D24
TECR
TMEM240
TMLHE
TNIK
TSEN54
TSHR
TSPAN7
TUBA1A
TUSC3
USP27X
WWOX
ZC3H14
ZDHHC15
ZFYVE26
ZNF711

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