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 894
CPT CODE 81470, 81243, 81244, 81471, 81302, 81304, 81404, 81405, 81406 x2
PRICE $2695
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.

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
  • Intellectual Disability, X-linked Intellectual Disability, Fragile X Syndrome

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
ACADM
ACADS
ACADSB
ACAT1
ACE
ACO2
ACOX1
ACSL4
ACTB
ACTG1
ACY1
ADAMTSL2
ADAR
ADCK3
ADD3
ADK
ADNP
ADSL
AFF2
AGA
AHCY
AHDC1
AHI1
AIFM1
AIMP1
AIP
AKT2
AKT3
ALDH18A1
ALDH3A2
ALDH5A1
ALDH6A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG11
ALG2
ALG3
ALG6
ALG9
AMPD2
AMT
ANK3
ANO10
AP1S2
AP3B1
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
AP4S1
APC2
APOPT1
APTX
ARCN1
ARFGEF2
ARG1
ARHGEF6
ARHGEF9
ARID1A
ARID1B
ARL13B
ARL6
ARSA
ARSB
ARSE
ARX
ASAH1
ASL
ASNS
ASPA
ASPM
ASS1
ASXL2
ATIC
ATL1
ATP1A2
ATP1A3
ATP2A2
ATP5A1
ATP6AP2
ATP6V0A2
ATP7A
ATP8A2
ATPAF2
ATRX
AUH
AUTS2
B3GALNT2
B3GALT6
B3GNT1
B4GALT1
B4GALT7
B9D1
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCKDHA
BCKDHB
BCL11A
BCL11B
BCOR
BCS1L
BOLA3
BRAF
BRPF1
BRWD3
BSCL2
BSND
BTD
C10ORF2
C12ORF57
C12orf65
C19orf12
C5ORF42
CA5A
CA8
CACNA1A
CACNA1C
CACNG2
CAD
CAMTA1
CARS2
CASC5
CASK
CBL
CBS
CC2D1A
CC2D2A
CCDC22
CCDC28B
CCDC88A
CCDC88C
CDC45
CDC6
CDH15
CDK5RAP2
CDKL5
CDKN1C
CDON
CDT1
CECR1
CENPJ
CEP135
CEP152
CEP290
CEP41
CERS1
CHD2
CHD4
CHD7
CHD8
CHKB
CHMP1A
CHRNA4
CHST14
CIT
CLCN4
CLCNKA
CLCNKB
CLIC2
CLN3
CLN5
CLN8
CLP1
CLPP
CNKSR2
COASY
COG4
COG6
COL11A2
COL2A1
COL4A1
COQ2
COQ4
COQ7
COQ9
COX10
COX14
COX15
COX20
COX4I2
COX6B1
COX7B
COX8A
CPS1
CPT2
CRADD
CRBN
CREBBP
CSPP1
CSTB
CTDP1
CTH
CTNNB1
CTSA
CTSD
CUL4B
CYP27A1
D2HGDH
DARS
DBT
DCAF17
DCPS
DCX
DDC
DDHD2
DDOST
DEAF1
DEPDC5
DGUOK
DHCR24
DHCR7
DHFR
DHTKD1
DKC1
DLAT
DLD
DLG3
DNA2
DNAJC12
DNAJC19
DNAJC6
DNM1
DNM1L
DNMT3A
DOLK
DPAGT1
DPM1
DPM2
DPYS
DYM
DYNC1H1
DYRK1A
EARS2
EBP
ECHS1
EDC3
EEF1A2
EFEMP2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
EPB41L1
EPM2A
ERCC1
ERCC2
ERCC4
ERCC5
ERCC6
ERCC8
ERLIN2
ERMARD
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
EXT2
EZH2
FAM126A
FAM20C
FANCA
FARS2
FASTKD2
FBLN5
FBN1
FBXL4
FGD1
FGF14
FH
FIG4
FKRP
FKTN
FLNA
FLVCR2
FMR1
FOLR1
FOXG1
FOXP1
FOXP2
FOXRED1
FRMPD4
FTCD
FTSJ1
FUCA1
GABRA1
GABRB3
GAD1
GALC
GAMT
GATA6
GATM
GBA
GBA2
GCDH
GCH1
GCK
GCSH
GDI1
GFAP
GFM1
GJA1
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GLUD1
GMPPA
GMPPB
GNAO1
GNAQ
GNB5
GNE
GNPAT
GNPTAB
GNPTG
GNS
GPC3
GPI
GPR56
GPSM2
GPT2
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRM1
GSS
GTPBP3
GUF1
GUSB
HADH
HADHA
HADHB
HCCS
HCFC1
HCN1
HDAC8
HECW2
HELLS
HEPACAM
HERC2
HEXB
HGSNAT
HLCS
HMGB3
HNRNPH2
HOXA1
HPD
HPRT1
HRAS
HSD17B10
HSD17B4
HSPD1
HSPG2
HUWE1
IARS
IBA57
IDS
IDUA
IER3IP1
IFIH1
IFT172
IFT74
IGBP1
IGF1R
IL1RAPL1
IMPA1
INPP5E
INS
IQSEC2
ISPD
ITGA7
ITM2B
ITPA
ITPR1
JAG1
KANSL1
KARS
KATNAL2
KCNB1
KCNC3
KCNJ1
KCNJ11
KCNJ2
KCNQ2
KCNT1
KCTD7
KDM5C
KDM6A
KIAA0196
KIAA2022
KIDINS220
KIF1A
KIF2A
KIF4A
KIF7
KIRREL3
KMT2D
KPTN
KRAS
KRT18
L1CAM
L2HGDH
LAMA2
LAMB1
LAMC3
LAMP2
LARGE
LARP7
LIAS
LINS
LIPT1
LMBRD1
LMNA
LRPPRC
LYRM7
LYST
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
MARS2
MAT1A
MBD5
MBOAT7
MBTPS2
MCCC1
MCOLN1
MCPH1
MECP2
MED12
MED13L
MED23
MED25
MEF2C
METTL23
MFSD2A
MFSD8
MGAT2
MICU1
MID1
MID2
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MOCS1
MOCS2
MOGS
MPC1
MPDZ
MPLKIP
MPV17
MRPL3
MRPS22
MTFMT
MTHFR
MTM1
MTR
MUSK
MVK
MYH3
MYH8
NAA10
NAGA
NAGLU
NAGS
NANS
NARS2
NAXE
NDP
NDST1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF6
NDUFAlsF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEU1
NF1
NFIA
NFIX
NFU1
NGF
NGLY1
NHLRC1
NHS
NIPBL
NKAIN2
NKX2-5
NLGN3
NLGN4X
NPAS2
NPAS3
NPAS4
NPC1
NPC2
NPHP1
NPR2
NRAS
NRXN1
NSD1
NSD2
NSDHL
NSMCE2
NSUN2
NT5C2
NTRK1
NUBPL
OCLN
OCRL
OFD1
OPA1
OPHN1
ORC1
ORC4
ORC6
OTC
P3H1
PACS1
PAFAH1B1
PAH
PAK3
PALB2
PANK2
PARN
PC
PCDH19
PDE6D
PDGFRB
PDHA1
PDHX
PDP1
PDSS1
PEPD
PEX1
PEX12
PEX2
PEX5
PEX7
PGAP1
PGAP2
PGAP3
PGK1
PGM3
PHF6
PHF8
PHGDH
PI4KA
PIEZO2
PIGA
PIGL
PIGN
PIGO
PIGT
PIGV
PIGY
PIK3CA
PIK3R2
PLA2G6
PLCB1
PLEKHG2
PLOD3
PLP1
PMM2
PNKP
PNPLA6
PNPO
POLA1
POLG
POLR3A
POLR3B
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PORCN
PPT1
PQBP1
PRMT7
PRNP
PRPS1
PRSS12
PSAP
PSMB8
PSPH
PTCH1
PTCHD1
PTDSS1
PTEN
PTPN11
PTS
PURA
PUS1
PUS3
PYCR1
PYROXD1
QDPR
RAB39B
RAD21
RAF1
RAI1
RAPSN
RARS
RARS2
RBM10
RECQL4
RELN
RET
RFT1
RIN2
RIT1
RLIM
RMRP
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
RNF135
RNU4ATAC
ROGDI
ROR2
RPGRIP1L
RPL10
RPS19
RPS6KA3
RRM2B
RTTN
SACS
SAMHD1
SASS6
SATB2
SBF1
SCAF4
SCAF8
SCN11A
SCN1A
SCN2A
SCN8A
SCN9A
SCO1
SCO2
SDHA
SDHAF1
SDHD
SEMA3E
SEPSECS
SERAC1
SERPINH1
SETBP1
SETD2
SETD5
SGSH
SHANK2
SHANK3
SHH
SHOC2
SHROOM4
SIL1
SIX3
SKI
SLC12A1
SLC12A6
SLC13A5
SLC16A1
SLC16A2
SLC17A5
SLC18A3
SLC19A2
SLC19A3
SLC1A2
SLC1A4
SLC20A2
SLC25A1
SLC25A12
SLC25A19
SLC25A22
SLC2A1
SLC2A10
SLC33A1
SLC35A2
SLC35C1
SLC39A14
SLC46A1
SLC52A2
SLC6A1
SLC6A3
SLC6A8
SLC6A9
SLC9A6
SLC9A9
SLX4
SMAD4
SMARCA2
SMARCA4
SMARCB1
SMARCE1
SMC1A
SMC3
SMPD1
SMS
SNAP29
SNORD118
SNRPB
SOBP
SON
SOS1
SOX10
SOX3
SOX5
SPAST
SPG11
SPG20
SPR
SPRED1
SPTAN1
SPTBN2
SRCAP
SRD5A3
SRPX2
SSR4
ST3GAL3
ST3GAL5
STIL
STIM1
STRADA
STT3A
STT3B
STX1B
STXBP1
SUCLA2
SUCLG1
SUMF1
SUOX
SURF1
SYN1
SYNGAP1
SYP
SYT14
SZT2
TACO1
TAF1
TARS2
TAT
TBC1D20
TBC1D24
TBCD
TBL1XR1
TBX1
TCF4
TCN2
TCTN1
TCTN2
TCTN3
TECR
TELO2
TGFBR1
TGFBR2
TH
THRA
TIMM8A
TKT
TMEM138
TMEM165
TMEM216
TMEM231
TMEM237
TMEM240
TMEM67
TMEM70
TMLHE
TMTC3
TNIK
TPK1
TPP1
TRAPPC9
TREX1
TRIM32
TRMT10A
TRMT5
TRNT1
TSC1
TSC2
TSEN2
TSEN34
TSEN54
TSFM
TSHR
TSPAN7
TTC19
TTC8
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUSC3
UBE2A
UBE3A
UCHL1
UPF3B
UQCC2
UQCRQ
USP27X
USP9X
VAC14
VARS2
VIPAS39
VLDLR
VPS13B
VPS33A
VPS33B
VPS37A
VPS45
VPS53
VRK1
WDR34
WDR45
WDR62
WDR81
WFS1
WNT1
WWOX
XPA
ZBTB18
ZC3H14
ZC4H2
ZDHHC15
ZDHHC9
ZEB2
ZFYVE26
ZIC1
ZIC2
ZIC3
ZMYND11
ZNF148
ZNF335
ZNF423
ZNF592
ZNF711

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