Nonsyndromic Intellectual Disability


Test Details
TEST CODE NGS349
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 560
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
AASS
ABCA7
ABCD4
ACADM
ACADS
ACADSB
ACAT1
ACD
ACP5
ACSL4
ACVR1
ACY1
ADAT3
ADRA2B
ADSL
AFF2
AIMP1
AIP
ALDH4A1
ALDH5A1
ALDH7A1
ALG6
ALX3
ALX4
AMER1
AMT
ANK3
ANKLE2
AP2S1
APOA1BP
APOL2
APOL4
AQP2
ARFGEF2
ARG1
ARHGEF6
ARHGEF9
ARMC5
ARV1
ASPA
ASS1
ATP1A2
ATP5A1
ATP6AP1
ATP6AP2
ATP6V1A
AUH
AVPR2
B3GAT3
BCAP31
BCL11B
BMPER
BRCA2
BTK
C11orf73
C11orf83
C12orf65
C19orf12
CA2
CA5A
CACNA1A
CACNA1D
CACNG2
CAMK2A
CAMK2B
CANT1
CARS2
CASC5
CASK
CC2D1A
CCDC115
CCDC174
CCDC41
CCDC88C
CDC45
CDH15
CDK13
CDK5
CDK5RAP2
CDK6
CENPE
CEP120
CEP164
CEP19
CEP55
CERS1
CHAMP1
CHD2
CHI3L1
CHRNA4
CIC
CLPB
CNKSR2
CNNM2
CNTN2
COASY
COG2
COL4A2
COL4A3BP
CORO1A
CPS1
CPT2
CRADD
CRBN
CRIPT
CSTB
CTC1
CTCF
CTH
CTNNB1
CWF19L1
CYB5R3
CYP27B1
DAG1
DAO
DAOA
DARS
DBT
DCC
DDR2
DDX3X
DEAF1
DEPDC5
DHFR
DIP2B
DLAT
DLD
DLG3
DNAJC12
DNAJC6
DNM1
DONSON
DPH1
DPYS
DUOXA2
DYNC1H1
DYX1C1
ECE1
ECM1
EDC3
EFNB1
EFTUD2
EIF4A3
ELAC2
ELP2
EMC1
EML1
ENTPD1
EPB41L1
EPM2A
ERF
ERMARD
ETHE1
EXOSC3
EXOSC8
EYA1
F2
F5
FAM126A
FANCC
FANCD2
FANCE
FANCI
FANCL
FAR1
FARS2
FASTKD2
FBXO31
FGF14
FGFR1
FGFR2
FGFR3
FKTN
FMN2
FMO3
FOLR1
FOXP1
FOXP2
FRMD4A
FRMPD4
FTCD
FTO
FTSJ1
GABRA1
GABRB1
GABRB3
GAD1
GALC
GALE
GATAD2B
GCDH
GCH1
GCSH
GDI1
GFAP
GFM1
GJC2
GLDC
GLIS3
GLRX5
GLUD1
GLUD2
GLYCTK
GNAO1
GNAQ
GNAS
GNB1
GNB5
GORAB
GPR88
GPT2
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GTF2E2
GTPBP3
GUCY2D
GUF1
HACE1
HADH
HAL
HAX1
HCFC1
HCN1
HDAC6
HECW2
HELLS
HEPACAM
HERC1
HERC2
HESX1
HEXB
HIBCH
HIVEP2
HLA-DQA1
HLA-DQB1
HLA-DRB1
HNMT
HNRNPU
HPD
HSPD1
ICK
IFNG
IFT140
IFT52
IGF1
IGF1R
IGF2
IKBKG
IL1RAPL1
IMPA1
INS
IQSEC2
ITCH
ITGA3
ITGA7
ITPA
IVD
JAM3
JPH3
KAT6A
KATNAL2
KATNB1
KCNA2
KCNB1
KCNC3
KCNJ2
KCNQ2
KCNT1
KCTD17
KCTD7
KDM1A
KIAA0226
KIAA1033
KIAA2022
KIF11
KIF14
KIF1A
KIF2A
KIF4A
KIF5C
KLHL15
KYNU
L2HGDH
LAMA2
LAMB1
LAMC3
LBR
LEP
LHX3
LIPT2
LMAN2L
LMNB2
LYRM7
MAG
MAOA
MAPRE2
MARS2
MAT1A
MBOAT7
MCCC1
MCCC2
MCM4
MCPH1
MED17
MED23
MEIS2
MFF
MFSD2A
MFSD8
MICU1
MID2
MLC1
MLYCD
MMADHC
MOCS2
MORC2
MPC1
MPDZ
MRPL3
MRPS34
MSMO1
MYT1L
NACC1
NADK2
NAGS
NALCN
NARS2
NAT8L
NDE1
NDST1
NECAP1
NEDD4L
NFIA
NFKB2
NHP2
NKAIN2
NKX2-1
NLGN4X
NONO
NOP10
NR3C1
NT5C2
NTRK2
NUP62
NUS1
OGT
OTC
OTX2
PAFAH1B1
PAH
PALB2
PCCA
PCCB
PCDH19
PCLO
PCNA
PCNT
PDCD1
PDE4D
PDP1
PEPD
PET100
PGAP1
PGAP2
PGBD3
PHC1
PIEZO1
PIGG
PIGP
PIK3R1
PLA2G6
PLCB1
PLG
PLK4
PLP1
PMPCA
PNP
POC1A
POLA1
POLR1C
POP1
POU1F1
PPP1R15B
PPP2R1A
PPP2R5D
PPP3CA
PRDM8
PRF1
PRKAR1A
PRKCH
PRKD1
PRKDC
PROC
PRODH
PRRX1
PRSS12
PSAT1
PSPH
PTCHD1
PTF1A
PTRH2
PTS
PUS3
PYCR2
PYROXD1
QARS
RAB39B
RAC1
RAD51
RARB
RARS
RELN
RERE
RNASEH1
RNASET2
RNF113A
RNF135
ROBO3
RPE65
RPIA
RPL11
RPS17
RPS23
RPS6KA3
RSPRY1
RTEL1
RTN4IP1
RTN4R
SASS6
SC5D
SCN1A
SCN2A
SCN8A
SCN9A
SCYL1
SEC61A1
SEPSECS
SF3B4
SFXN4
SHH
SHROOM4
SIK1
SIX3
SLC12A5
SLC13A5
SLC16A1
SLC19A3
SLC1A1
SLC20A2
SLC25A1
SLC25A12
SLC25A22
SLC25A26
SLC2A1
SLC35A3
SLC39A14
SLC39A4
SLC39A8
SLC4A4
SLC5A5
SLC6A1
SLC6A17
SLC6A19
SLC7A7
SLC9A9
SLITRK1
SMO
SMOC1
SNIP1
SNX14
SOST
SOX11
SOX2
SPARC
SPAST
SPR
SPTAN1
SPTBN4
ST3GAL3
STAC3
STAG1
STAT2
STIL
STRA6
STUB1
STX11
STX1B
STXBP1
SYNGAP1
SYP
SZT2
TAC3
TAF2
TANGO2
TBC1D24
TBCE
TBCK
TBK1
TCF12
TDP2
TECR
TERT
TG
THOC2
THRB
TIMMDC1
TINF2
TM4SF20
TMEM126B
TMEM199
TMEM240
TMEM5
TMLHE
TNIK
TRAPPC11
TRH
TRIO
TRIP4
TSEN15
TSEN54
TSHR
TSPAN7
TTI2
TUBA1A
TUBGCP4
TUBGCP6
TUSC3
TXN2
UBB
UBTF
UMPS
UNC80
UPB1
UROC1
USP18
USP27X
VARS
VDR
VPS11
VPS13A
VPS13C
VWA3B
WDFY3
WWOX
XPNPEP3
XPR1
XRCC4
XYLT1
YAP1
YME1L1
ZBTB16
ZC3H14
ZDHHC15
ZFYVE26
ZNF711
ZSWIM6

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