Syndromic Intellectual Disability


Test Details
TEST CODE NGS350
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 686
CPT CODE 81302, 81304, 81404, 81405, 81479
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). It is estimated that up to 50% of moderate-severe cases have genetic causes including chromosomal abnormalities and monogenic defects. Chromosomal abnormalities are: aneuploidies, duplications and submicroscopic deletions. Of the autosomal trisomy’s, trisomy 21 is the most common chromosome abnormality associated with ID. Approximately 10% of syndromic cases are due to X-linked intellectual disability disorders (XLID).

Relevant Diseases
  • Intellectual disability, syndromic

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
AARS
AARS2
ABAT
ABCC8
ABCC9
ABCD1
ABHD5
ACE
ACO2
ACOX1
ACTB
ACTG1
ADAMTSL2
ADAR
ADCK3
ADD3
ADNP
AFF2
AGA
AHCY
AHDC1
AHI1
AIFM1
AKT2
AKT3
ALDH18A1
ALDH3A2
ALDH6A1
ALDOA
ALDOB
ALG1
ALG11
ALG2
ALG3
ALG9
AMPD2
ANO10
AP1S2
AP3B1
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
AP4S1
APC2
APOPT1
APTX
ARCN1
ARID1A
ARID1B
ARL13B
ARL6
ARSA
ARSB
ARSE
ARX
ASAH1
ASL
ASNS
ASPM
ASXL2
ATIC
ATL1
ATP1A3
ATP2A2
ATP6V0A2
ATP7A
ATP8A2
ATPAF2
ATRX
AUTS2
B3GALNT2
B3GALT6
B3GNT1
B4GALT1
B4GALT7
B9D1
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCKDHA
BCKDHB
BCL11A
BCOR
BCS1L
BOLA3
BRAF
BRPF1
BRWD3
BSCL2
BSND
BTD
C10ORF2
C12ORF57
C5ORF42
CA8
CACNA1C
CAD
CAMTA1
CASK
CBL
CBS
CC2D2A
CCDC22
CCDC28B
CCDC88A
CDC6
CDH15
CDKL5
CDKN1C
CDON
CDT1
CECR1
CENPJ
CEP135
CEP152
CEP290
CEP41
CHD4
CHD7
CHD8
CHKB
CHMP1A
CHST14
CIT
CLCN4
CLCNKA
CLCNKB
CLIC2
CLN3
CLN5
CLN8
CLP1
CLPP
COG4
COG6
COL11A2
COL2A1
COL4A1
COQ2
COQ4
COQ7
COQ9
COX10
COX14
COX15
COX20
COX4I2
COX6B1
COX7B
COX8A
CREBBP
CSPP1
CTDP1
CTSA
CTSD
CUL4B
CYP27A1
D2HGDH
DCAF17
DCPS
DCX
DDC
DDHD2
DDOST
DGUOK
DHCR24
DHCR7
DHTKD1
DKC1
DLD
DNA2
DNAJC19
DNM1L
DNMT3A
DOLK
DPAGT1
DPM1
DPM2
DPYS
DYM
DYNC1H1
DYRK1A
EARS2
EBP
ECHS1
EEF1A2
EFEMP2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ERCC1
ERCC2
ERCC4
ERCC5
ERCC6
ERCC8
ERLIN2
ETFA
ETFB
ETFDH
EXOSC3
EXT2
EZH2
FAM20C
FANCA
FARS2
FASTKD2
FBLN5
FBN1
FBXL4
FGD1
FGF14
FH
FIG4
FKRP
FLNA
FLVCR2
FMR1
FOLR1
FOXG1
FOXRED1
FUCA1
GAMT
GATA6
GATM
GBA
GBA2
GCH1
GCK
GCSH
GJA1
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GMPPA
GMPPB
GNAQ
GNE
GNPAT
GNPTAB
GNPTG
GNS
GPC3
GPI
GPR56
GPSM2
GRIN2B
GRM1
GSS
GUSB
HADHA
HADHB
HCCS
HDAC8
HGSNAT
HLCS
HMGB3
HNRNPH2
HOXA1
HPRT1
HRAS
HSD17B10
HSD17B4
HSPD1
HSPG2
HUWE1
IARS
IBA57
IDS
IDUA
IER3IP1
IFIH1
IFT172
IFT74
IGBP1
INPP5E
ISPD
ITGA7
ITM2B
ITPR1
JAG1
KANSL1
KARS
KCNJ1
KCNJ11
KCTD7
KDM5C
KDM6A
KIAA0196
KIDINS220
KIF7
KIRREL3
KMT2D
KPTN
KRAS
KRT18
L1CAM
LAMA2
LAMP2
LARGE
LARP7
LIAS
LINS
LIPT1
LMBRD1
LMNA
LRPPRC
LYRM7
LYST
MAN1B1
MAN2B1
MANBA
MAP2K1
MAP2K2
MBD5
MBTPS2
MCCC1
MCOLN1
MECP2
MED12
MED13L
MED25
MEF2C
METTL23
MGAT2
MID1
MKKS
MKS1
MMAA
MMAB
MMACHC
MMADHC
MOCS1
MOGS
MPLKIP
MPV17
MRPL3
MRPS22
MTFMT
MTHFR
MTM1
MTR
MUSK
MVK
MYH3
MYH8
NAA10
NAGA
NAGLU
NANS
NARS2
NDP
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF6
NDUFAlsF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEU1
NF1
NFIX
NFU1
NGF
NGLY1
NHLRC1
NHS
NIPBL
NKX2-5
NLGN3
NPC1
NPC2
NPHP1
NPR2
NRAS
NRXN1
NSD1
NSD2
NSDHL
NSMCE2
NSUN2
NTRK1
NUBPL
OCLN
OCRL
OFD1
OPA1
OPHN1
ORC1
ORC4
ORC6
OTC
P3H1
PACS1
PAK3
PANK2
PARN
PC
PDE6D
PDGFRB
PDHA1
PDHX
PDP1
PDSS1
PEX1
PEX12
PEX2
PEX5
PEX7
PGAP1
PGAP3
PGK1
PGM3
PHF6
PHF8
PHGDH
PI4KA
PIEZO2
PIGA
PIGL
PIGN
PIGO
PIGT
PIGV
PIGY
PIK3CA
PIK3R2
PLEKHG2
PLOD3
PMM2
PNKP
PNPLA6
PNPO
POLG
POLR3A
POLR3B
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PORCN
PPT1
PQBP1
PRMT7
PRNP
PRPS1
PSAP
PSMB8
PSPH
PTCH1
PTDSS1
PTEN
PTPN11
PTS
PURA
PUS1
PYCR1
QDPR
RAD21
RAF1
RAI1
RAPSN
RARS2
RBM10
RECQL4
RET
RFT1
RIN2
RIT1
RLIM
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNU4ATAC
ROGDI
ROR2
RPGRIP1L
RPL10
RPS19
RPS6KA3
RRM2B
RTTN
SACS
SAMHD1
SATB2
SBF1
SCN11A
SCO1
SCO2
SDHA
SDHAF1
SDHD
SEMA3E
SERAC1
SERPINH1
SETBP1
SETD2
SETD5
SGSH
SHANK2
SHANK3
SHOC2
SIL1
SIX3
SKI
SLC12A1
SLC12A6
SLC16A2
SLC17A5
SLC18A3
SLC19A2
SLC19A3
SLC1A2
SLC1A4
SLC25A19
SLC2A10
SLC33A1
SLC35A2
SLC35C1
SLC46A1
SLC52A2
SLC6A3
SLC6A8
SLC6A9
SLC9A6
SLX4
SMAD4
SMARCA2
SMARCA4
SMARCB1
SMARCE1
SMC1A
SMC3
SMPD1
SMS
SNAP29
SNORD118
SNRPB
SOBP
SON
SOS1
SOX10
SOX3
SOX5
SPG11
SPG20
SPR
SPRED1
SPTBN2
SRCAP
SRD5A3
SRPX2
SSR4
ST3GAL5
STIM1
STRADA
STT3A
STT3B
SUCLA2
SUCLG1
SUMF1
SUOX
SURF1
SYN1
SYT14
TACO1
TAF1
TARS2
TAT
TBC1D20
TBCD
TBL1XR1
TBX1
TCF4
TCN2
TCTN1
TCTN2
TCTN3
TELO2
TGFBR1
TGFBR2
TH
THRA
TIMM8A
TKT
TMEM138
TMEM165
TMEM216
TMEM231
TMEM237
TMEM67
TMEM70
TMTC3
TPK1
TPP1
TRAPPC9
TREX1
TRIM32
TRMT10A
TRMT5
TRNT1
TSC1
TSC2
TSEN2
TSEN34
TSFM
TTC19
TTC8
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
UBE2A
UBE3A
UCHL1
UPF3B
UQCC2
UQCRQ
USP9X
VAC14
VARS2
VIPAS39
VLDLR
VPS13B
VPS33A
VPS33B
VPS37A
VPS45
VPS53
VRK1
WDR34
WDR45
WDR62
WDR81
WFS1
WNT1
XPA
ZBTB18
ZC4H2
ZDHHC9
ZEB2
ZIC1
ZIC2
ZIC3
ZMYND11
ZNF148
ZNF335
ZNF423
ZNF592

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