Microarray Testing

(芯片检测)



Chip
Disease Genes Mutations Comment
ABCR CHIP STARGARDT DISEASE 1

ALSO:

CONE-ROD DYSTROPHY

RETINITIS PIGMENTOSA

FUNDUS FLAVIMACULATUS

AGE-RELATED MACULAR DYSTROPHY
ABCR (ABCA4) 465 positions  
AMPLI CHIP CYP450

MEDICATION CYP2D6 and CYP2C19 30 mutations in CYP2D6 and 2 mutations in CYP2C19  

ASKHENAZI JEWISH DISEASES CHIP

ASKHENAZI JEWISH DISEASES

HEXA, RECQL3, ASPA, FANCC, SMPD1, MCOLN1, CF, IKBKAP, DYT1, F11, G6PC, BCKHDB, MEFV, GJB2, GBA, GDE 83 mutations in 16 genes  
BARDET-BIEDL CHIP BARDET-BIEDL SYNDROME BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, DBBS7, BBS8, BBS9, BBS10, BBS11 237 positions  
CGH CHIP - Postnatal Testing

MENTAL RETARDATION

CONGENITAL ANOMALIES

Genome-wide Coverage Agilent 44k CGH Microarray with 44.000 Oligonucleotides At least 5 microgram DNA from patient and parents
CGH CHIP - Prenatal Testing

PRENATAL TESTING

Targeted CGH Array

SignaturePrenatal Chip with 1083 BAC Clones

At least 5 microgram DNA from patient and parents
DEAFNESS CHIP
DEAFNESS

ALSO:

KID SYNDROME

BART-PUMPHREY SYNDROME
GJB2, GJB3, GJB6, GJA1, SLC26A4, SLC26A5, and Mitochondrial DNA 200 positions  
LIPO CHIP
HYPERCHOLESTEROLEMIA LDLR and APOB 203 mutations in LDLR and 4 mutations in APOB  
LEBER CHIP LEBER CONGENITAL AMAUROSIS

ALSO:

RETINITIS PIGMENTOSA

CONE-ROD DYSTROPHY
CRB1, AIPL1, GUCY2D, CRX, RPE65, RPGRIP1, MERTK, LRAT, CEP290, RDH12 436 positions  
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) CHIP RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT)

ALSO:

LEBER CONGENITAL AMAUROSIS

CONE-ROD DYSTROPHY
CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX 341 positions  
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) CHIP RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE)

ALSO:

LEBER CONGENITAL AMAUROSIS

CONE-ROD DYSTROPHY
CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB1, RPE65, USH2A, USH3A 501 positions  
USHER CHIP
USHER SYNDROME

ALSO:

DEAFNESS
CDH23, MYO7A, PCDH15, HARMONIN, SANS, USHERIN, MASS1, USH3A 429 positions  


 



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