Comprehensive Intellectual Disability/Autism + mtDNA + Fragile X Repeat Expansion & Methylation
Test Details
| TEST CODE | NGS432 |
| TEST METHODOLOGY | NGS; Repeat Primed-PCR |
| TAT (TURNAROUND TIME) | 2 - 4 weeks |
| GENES | 1387 |
| CPT CODE | 81470, 81243, 81244, 81471, 81302, 81304, 81404, 81405, 81406 x2, 81460, 81465 |
| PRICE | $2695 |
| RECOMMENDED MNG KITS |
|
SINGLE Blood Genetic Testing 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. 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 trisomies, 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). More than 100 XLID syndromes have been described in the literature to date. Fragile X is the most common XLID syndrome (~1 in 4000 males) while other syndromes can be quite rare with only a few patients reported in the literature. Males can have moderate to severe intellectual disability depending on the diagnosed syndrome. Carrier females can also be affected, but typically have milder clinical symptoms. |
| Relevant Diseases |
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Specimen Information
| Acceptable Sample Types |
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| 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
AASS
ABAT
ABCA7
ABCC8
ABCC9
ABCD1
ABCD4
ABHD5
ACADM
ACADS
ACADSB
ACAT1
ACD
ACE
ACO2
ACOX1
ACP5
ACSL4
ACTB
ACTG1
ACVR1
ACY1
ADAMTS10
ADAMTSL2
ADAR
ADAT3
ADCK3
ADD3
ADK
ADNP
ADRA2B
ADSL
AFF2
AFF4
AGA
AHCY
AHDC1
AHI1
AIFM1
AIMP1
AIP
AKT1
AKT2
AKT3
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH6A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG11
ALG2
ALG3
ALG6
ALG9
ALMS1
ALX3
ALX4
AMER1
AMPD2
AMT
ANK3
ANKLE2
ANKRD11
ANO10
ANTXR1
AP1S1
AP1S2
AP2S1
AP3B1
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
AP4S1
APC2
APOA1BP
APOL2
APOL4
APOPT1
APTX
AQP2
ARCN1
ARFGEF2
ARG1
ARHGAP31
ARHGDIA
ARHGEF6
ARHGEF9
ARID1A
ARID1B
ARL13B
ARL6
ARMC5
ARSA
ARSB
ARSE
ARV1
ARX
ASAH1
ASL
ASNS
ASPA
ASPH
ASPM
ASS1
ASXL1
ASXL2
ATIC
ATL1
ATP1A2
ATP1A3
ATP2A2
ATP5A1
ATP6AP1
ATP6AP2
ATP6V0A2
ATP6V1A
ATP6V1B2
ATP7A
ATP8A2
ATPAF2
ATR
ATRX
AUH
AUTS2
AVPR2
B3GALNT2
B3GALT6
B3GALTL
B3GAT3
B3GNT1
B4GALT1
B4GALT7
B9D1
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCKDHA
BCKDHB
BCL11A
BCL11B
BCOR
BCS1L
BMP4
BMPER
BOLA3
BRAF
BRAT1
BRCA2
BRF1
BRPF1
BRWD3
BSCL2
BSND
BTD
BTK
BUB1B
C10ORF2
C11orf73
C11orf83
C12ORF57
C12orf65
C19orf12
C2CD3
C5ORF42
C8orf37
CA2
CA5A
CA8
CACNA1A
CACNA1C
CACNA1D
CACNG2
CAD
CAMK2A
CAMK2B
CAMTA1
CANT1
CARS2
CASC5
CASK
CBL
CBS
CC2D1A
CC2D2A
CCBE1
CCDC115
CCDC174
CCDC22
CCDC28B
CCDC41
CCDC88A
CCDC88C
CCND2
CD96
CDC45
CDC6
CDH15
CDK13
CDK5
CDK5RAP2
CDK6
CDKL5
CDKN1C
CDON
CDT1
CECR1
CENPE
CENPF
CENPJ
CEP104
CEP120
CEP135
CEP152
CEP164
CEP19
CEP290
CEP41
CEP55
CEP57
CEP63
CERS1
CFH
CFHR1
CFHR3
CHAMP1
CHD1
CHD2
CHD4
CHD7
CHD8
CHI3L1
CHKB
CHMP1A
CHRNA4
CHST14
CIC
CIT
CKAP2L
CLCN4
CLCNKA
CLCNKB
CLIC2
CLN3
CLN5
CLN8
CLP1
CLPB
CLPP
CNKSR2
CNNM2
CNTN2
COASY
COG2
COG4
COG6
COL11A2
COL13A1
COL18A1
COL2A1
COL4A1
COL4A2
COL4A3BP
COLEC11
COQ2
COQ4
COQ7
COQ9
CORO1A
COX10
COX14
COX15
COX20
COX4I2
COX6B1
COX7B
COX8A
CPS1
CPT2
CRADD
CRBN
CREBBP
CRIPT
CRLF1
CSNK1D
CSNK2A1
CSPP1
CSTB
CTC1
CTCF
CTDP1
CTH
CTNNB1
CTSA
CTSD
CUL4B
CWF19L1
CYB5R3
CYP27A1
CYP27B1
D2HGDH
DAG1
DAO
DAOA
DARS
DBT
DCAF17
DCC
DCHS1
DCPS
DCX
DDC
DDHD2
DDOST
DDR2
DDX11
DDX3X
DDX59
DEAF1
DEPDC5
DGUOK
DHCR24
DHCR7
DHFR
DHTKD1
DIAPH1
DIP2B
DIS3L2
DKC1
DLAT
DLD
DLG3
DMXL2
DNA2
DNAJC12
DNAJC19
DNAJC6
DNM1
DNM1L
DNMT3A
DNMT3B
DOCK6
DOLK
DONSON
DPAGT1
DPH1
DPM1
DPM2
DPYS
DUOXA2
DYM
DYNC1H1
DYRK1A
DYX1C1
EARS2
EBF3
EBP
ECE1
ECHS1
ECM1
EDC3
EED
EEF1A2
EFEMP2
EFNB1
EFTUD2
EHMT1
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF4A3
ELAC2
ELOVL4
ELP2
EMC1
EML1
ENTPD1
EP300
EPB41L1
EPG5
EPM2A
ERCC1
ERCC2
ERCC4
ERCC5
ERCC6
ERCC6L2
ERCC8
ERF
ERLIN2
ERMARD
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EVC
EVC2
EXOSC3
EXOSC8
EXT2
EYA1
EZH2
F2
F5
FAM126A
FAM20C
FANCA
FANCC
FANCD2
FANCE
FANCI
FANCL
FAR1
FARS2
FASTKD2
FAT4
FBLN5
FBN1
FBXL4
FBXO31
FGD1
FGF14
FGFR1
FGFR2
FGFR3
FH
FIBP
FIG4
FKRP
FKTN
FLNA
FLNB
FLVCR2
FMN2
FMO3
FMR1
FOLR1
FOXG1
FOXP1
FOXP2
FOXRED1
FRAS1
FREM2
FRMD4A
FRMPD4
FTCD
FTO
FTSJ1
FUCA1
GABRA1
GABRB1
GABRB3
GAD1
GALC
GALE
GAMT
GATA6
GATAD2B
GATM
GBA
GBA2
GCDH
GCH1
GCK
GCSH
GDI1
GFAP
GFM1
GJA1
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GLIS3
GLRX5
GLUD1
GLUD2
GLYCTK
GMNN
GMPPA
GMPPB
GNAO1
GNAQ
GNAS
GNB1
GNB5
GNE
GNPAT
GNPTAB
GNPTG
GNS
GORAB
GPC3
GPI
GPR56
GPR88
GPSM2
GPT2
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIP1
GRM1
GSS
GTF2E2
GTPBP3
GUCY2D
GUF1
GUSB
HAAO
HACE1
HADH
HADHA
HADHB
HAL
HAX1
HCCS
HCFC1
HCN1
HDAC6
HDAC8
HECW2
HELLS
HEPACAM
HERC1
HERC2
HESX1
HEXB
HGSNAT
HIBCH
HIST1H1E
HIVEP2
HLCS
HMGB3
HNMT
HNRNPH2
HNRNPK
HNRNPU
HOXA1
HPD
HPRT1
HPS6
HRAS
HSD17B10
HSD17B4
HSPD1
HSPG2
HUWE1
IARS
IBA57
ICK
IDS
IDUA
IER3IP1
IFIH1
IFNG
IFT140
IFT172
IFT27
IFT52
IFT74
IGBP1
IGF1
IGF1R
IGF2
IKBKG
IL1RAPL1
IMPA1
INPP5E
INS
INSR
IQSEC2
IRX5
ISCA2
ISPD
ITCH
ITGA3
ITGA7
ITM2B
ITPA
ITPR1
IVD
JAG1
JAM3
JPH3
KANSL1
KARS
KAT6A
KAT6B
KATNAL2
KATNB1
KCNA2
KCNB1
KCNC3
KCNH1
KCNJ1
KCNJ10
KCNJ11
KCNJ2
KCNJ6
KCNQ2
KCNT1
KCTD17
KCTD7
KDM1A
KDM5C
KDM6A
KIAA0196
KIAA0226
KIAA0556
KIAA0586
KIAA1033
KIAA1279
KIAA2022
KIDINS220
KIF11
KIF14
KIF1A
KIF2A
KIF4A
KIF5C
KIF7
KIRREL3
KLHL15
KMT2A
KMT2C
KMT2D
KPTN
KRAS
KRT18
KYNU
L1CAM
L2HGDH
LAGE3
LAMA1
LAMA2
LAMB1
LAMB2
LAMC3
LAMP2
LARGE
LARP7
LARS
LAS1L
LBR
LEP
LEPRE1
LHX3
LIAS
LIG4
LINS
LIPT1
LIPT2
LMAN2L
LMBRD1
LMNA
LMNB2
LONP1
LRP2
LRP5
LRPPRC
LYRM7
LYST
LZTFL1
LZTR1
MAB21L2
MAF
MAG
MAGEL2
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
MAPRE2
MARS2
MASP1
MAT1A
MBD5
MBOAT7
MBTPS2
MCCC1
MCCC2
MCM4
MCOLN1
MCPH1
MECP2
MED12
MED13L
MED17
MED23
MED25
MEF2C
MEGF8
MEIS2
METTL23
MFF
MFSD2A
MFSD8
MGAT2
MGP
MICU1
MID1
MID2
MIR17HG
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MNX1
MOCS1
MOCS2
MOGS
MORC2
MPC1
MPDZ
MPLKIP
MPV17
MRPL3
MRPS22
MRPS34
MSMO1
MTFMT
MTHFR
MTM1
MTOR
MTR
MUSK
MVK
MYCN
MYH3
MYH8
MYO5A
MYT1L
NAA10
NACC1
NADK2
NAGA
NAGLU
NAGS
NALCN
NANS
NARS2
NAT8L
NBN
NDE1
NDN
NDNL2
NDP
NDST1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEU1
NF1
NFIA
NFIX
NFKB2
NFU1
NGF
NGLY1
NHLRC1
NHP2
NHS
NIN
NIPBL
NKAIN2
NKX2-1
NKX2-5
NLGN3
NLGN4X
NONO
NOP10
NPAS2
NPAS3
NPAS4
NPC1
NPC2
NPHP1
NPR2
NR2F1
NR3C1
NRAS
NRXN1
NSD1
NSDHL
NSMCE2
NSUN2
NT5C2
NTRK1
NTRK2
NUBPL
NUP62
NUS1
OCLN
OCRL
OFD1
OGT
OPA1
OPHN1
ORC1
ORC4
ORC6
OSGEP
OTC
OTX2
PACS1
PAFAH1B1
PAH
PAK3
PALB2
PANK2
PARN
PAX1
PAX2
PBX1
PC
PCCA
PCCB
PCDH19
PCLO
PCNA
PCNT
PDCD1
PDE4D
PDE6D
PDGFRB
PDHA1
PDHX
PDP1
PDSS1
PEPD
PER2
PER3
PET100
PEX1
PEX12
PEX2
PEX5
PEX7
PGAP1
PGAP2
PGAP3
PGK1
PGM3
PHC1
PHF6
PHF8
PHGDH
PI4KA
PIEZO1
PIEZO2
PIGA
PIGG
PIGL
PIGN
PIGO
PIGP
PIGT
PIGV
PIGW
PIGY
PIK3CA
PIK3R1
PIK3R2
PLA2G6
PLCB1
PLEKHG2
PLG
PLK4
PLOD3
PLP1
PMM2
PMPCA
PNKP
PNP
PNPLA6
PNPO
POC1A
POGZ
POLA1
POLG
POLR1C
POLR1D
POLR3A
POLR3B
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POP1
PORCN
POU1F1
PPP1R15B
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRDM8
PRF1
PRKAR1A
PRKCH
PRKD1
PRKDC
PRMT7
PRNP
PROC
PRODH
PRPS1
PRRX1
PRSS12
PSAP
PSAT1
PSMB8
PSPH
PTCH1
PTCH2
PTCHD1
PTDSS1
PTEN
PTF1A
PTPN11
PTRH2
PTS
PUF60
PURA
PUS1
PUS3
PYCR1
PYCR2
PYROXD1
QARS
QDPR
RAB18
RAB23
RAB27A
RAB39B
RAB3GAP1
RAB3GAP2
RAC1
RAD21
RAD51
RAF1
RAI1
RAPSN
RARB
RARS
RARS2
RBBP8
RBM10
RBM28
RBM8A
RBMX
RBPJ
RDH11
RECQL4
RELN
RERE
RET
RFT1
RIN2
RIT1
RLIM
RMRP
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF113A
RNF125
RNF135
RNF168
RNU4ATAC
ROBO3
ROGDI
ROR2
RPE65
RPGRIP1L
RPIA
RPL10
RPL11
RPS17
RPS19
RPS23
RPS6KA3
RRM2B
RSPRY1
RTEL1
RTN4IP1
RTN4R
RTTN
SACS
SALL1
SAMD9
SAMHD1
SASS6
SATB2
SBDS
SBF1
SC5D
SCAF4
SCAF8
SCN11A
SCN1A
SCN2A
SCN8A
SCN9A
SCO1
SCO2
SCYL1
SDCCAG8
SDHA
SDHAF1
SDHD
SEC61A1
SEMA3E
SEPSECS
SERAC1
SERPINH1
SETBP1
SETD2
SETD5
SF3B4
SFXN4
SGPL1
SGSH
SHANK2
SHANK3
SHH
SHOC2
SHROOM4
SIK1
SIL1
SIN3A
SIX3
SKI
SLC12A1
SLC12A5
SLC12A6
SLC13A5
SLC16A1
SLC16A2
SLC17A5
SLC18A3
SLC19A2
SLC19A3
SLC1A1
SLC1A2
SLC1A4
SLC20A2
SLC25A1
SLC25A12
SLC25A15
SLC25A19
SLC25A22
SLC25A26
SLC2A1
SLC2A10
SLC30A9
SLC33A1
SLC35A2
SLC35A3
SLC35C1
SLC39A14
SLC39A4
SLC39A8
SLC46A1
SLC4A4
SLC52A2
SLC5A5
SLC6A1
SLC6A17
SLC6A19
SLC6A3
SLC6A8
SLC6A9
SLC7A7
SLC9A6
SLC9A9
SLITRK1
SLX4
SMAD4
SMARCA2
SMARCA4
SMARCB1
SMARCE1
SMC1A
SMC3
SMG9
SMO
SMOC1
SMPD1
SMS
SNAP29
SNIP1
SNORD118
SNRPB
SNRPN
SNX14
SOBP
SON
SOS1
SOS2
SOST
SOX10
SOX11
SOX18
SOX2
SOX3
SOX5
SPARC
SPAST
SPATA5
SPECC1L
SPG11
SPG20
SPINK5
SPR
SPRED1
SPTAN1
SPTBN2
SPTBN4
SRCAP
SRD5A3
SRPX2
SSR4
ST3GAL3
ST3GAL5
STAC3
STAG1
STAMBP
STAT2
STIL
STIM1
STRA6
STRADA
STT3A
STT3B
STUB1
STX11
STX1B
STXBP1
SUCLA2
SUCLG1
SUFU
SUMF1
SUOX
SURF1
SYN1
SYNGAP1
SYP
SYT14
SZT2
TAC3
TACO1
TAF1
TAF2
TAF6
TANGO2
TARS2
TAT
TBC1D20
TBC1D24
TBC1D7
TBCD
TBCE
TBCK
TBK1
TBL1XR1
TBX1
TCF12
TCF4
TCN2
TCTN1
TCTN2
TCTN3
TDP2
TECR
TELO2
TERT
TFAP2A
TFAP2B
TG
TGDS
TGFBR1
TGFBR2
TH
THOC2
THOC6
THRA
THRB
TIMM8A
TIMMDC1
TINF2
TKT
TM4SF20
TMCO1
TMEM107
TMEM126B
TMEM138
TMEM165
TMEM199
TMEM216
TMEM231
TMEM237
TMEM240
TMEM5
TMEM67
TMEM70
TMLHE
TMTC3
TNIK
TP53RK
TP63
TPK1
TPP1
TRAF3IP1
TRAIP
TRAPPC11
TRAPPC9
TREX1
TRH
TRIM32
TRIO
TRIP4
TRMT10A
TRMT5
TRNT1
TSC1
TSC2
TSEN15
TSEN2
TSEN34
TSEN54
TSFM
TSHR
TSPAN7
TTC19
TTC37
TTC8
TTI2
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP4
TUBGCP6
TUSC3
TWIST1
TWIST2
TXN2
UBB
UBE2A
UBE3A
UBE3B
UBR1
UBTF
UCHL1
UMPS
UNC80
UPB1
UPF3B
UQCC2
UQCRQ
UROC1
USP18
USP27X
USP9X
VAC14
VARS
VARS2
VAX1
VDR
VIPAS39
VLDLR
VPS11
VPS13A
VPS13B
VPS13C
VPS33A
VPS33B
VPS37A
VPS45
VPS53
VRK1
VWA3B
WAC
WDFY3
WDR19
WDR34
WDR45
WDR62
WDR73
WDR81
WFS1
WHSC1
WNT1
WNT5A
WWOX
XK
XPA
XPNPEP3
XPR1
XRCC4
XYLT1
XYLT2
YAP1
YME1L1
ZBTB16
ZBTB18
ZBTB20
ZBTB24
ZC3H14
ZC4H2
ZDHHC15
ZDHHC9
ZEB2
ZFYVE26
ZIC1
ZIC2
ZIC3
ZMYND11
ZNF148
ZNF335
ZNF423
ZNF592
ZNF711
ZNHIT3
ZSWIM6
