Generom | Microarray Testing

Microarray Testing

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Chip	Boala	Gena	Mutatia	Comentariu
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 (Tay-Sachs Disease, Bloom Syndrome, Canavan Disease, Niemann-Pick A, Familial Dysautonomia, Torsion Dystonia, Mucolipidosis Type IV, Fanconi Anemia, Gaucher Disease, Factor XI Deficiency, Glycogen Storage Disease Type Ia , Maple Syrup Urine Disease, Non-Syndromic Sensorineural Hearing Loss, Familial Mediterranean Fever, Alpha 1-Anti-Trypsin Deficiency, Nemaline Myopathy, Usher Syndrome Type IF, Familial Hyperinsulinemia, Lipoamide Dehydrogenase Deficiency and Glycogen Storage Disease Type III, Familial Hypercholesterolemia, Cystic Fibrosis)	HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKHDB, GJB2, MEFV, GDE, GBA, SERPINA1, NEB, DLD, PCDH15, ABCC8, LDLR and CFTR	77 mutations in 22 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