Diagnostic Panels
CGC Mutation Panels - Patent Pending
Molecular Diagnosis of Bardet-Biedl Syndrome [Improved to 130 mutations on genes: ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, MKKS, MKS1, TRIM32, and TTC8]
Molecular Diagnosis of Craniosynostosis [Improved to 52 mutations on genes: FGFR1 (Pfeiffer), FGFR2 (Apert, Crouzon, Jackson-Weiss and Pfeiffer), FGFR3 (Muenke and Seathre-Chotzen) and RAB23 (Carpenter)]
Molecular Diagnosis of Fraser Syndrome [15 mutations on genes: FREM2 and FRAS1]
Molecular Diagnosis of Metabolic Disorders [93 mutations on genes: ACADM (MCAD), ARSA (Metachromatic leukodystrophy), ATP7B (Wilson disease), BTD (Biotinidase deficiency), CLN2/TPP1 (Neuronal Ceroid Lipofuscinosis), CLN5 (Neuronal Ceroid Lipofuscinosis), CLN8 (Neuronal Ceroid Lipofuscinosis), CPT2 (CPT II deficiency), FAH (Tyrosinemia), G6PC (GSD I), GAA (Pompe disease or GSD II), GALC (Krabbe disease), GALT (Galactosemia), GBA (Gaucher disease), HADHA (LCHAD), HEXA (Tay-Sachs disease), HGD (Alkaptonuria), MAN2B1 (Alpha-mannosidosis deficiency), NPC1 (Niemann-Pick C disease), NPC2 (Niemann-Pick C disease), PEX1 (Zellwegger disease), PEX26 (Zellwegger disease), PPT1 (Neuronal Ceroid Lipofuscinosis), PYGM (McArdle or GSD V disease) and SLC37A4 (GSD I)]
Molecular Diagnosis of Nonsyndromic Congenital Hearing Loss [136 mutations on genes: ACTG1, CDH23,COCH, CRYM, DNFA5, DIAPH1, GJA1, GJB2,GJB3, GJB6, KCNQ4, MYH14, MYO1A, MYO7A, OTOA, OTOF, POU3F4, SLC26A4, SLC26A5, TECTA, TMC1 and WFS1]
Molecular Diagnosis of Noonan Syndrome and other Genetically Related Syndromes (Noonan, Costello, LEOPARD and Cardiofaciocutaneous) [Improved to 80 mutations on genes: PTPN11, SOS1, RAF1, KRAS, MAP2K1, MAP2K, BRAF and HRAS]
Molecular Diagnosis of Skeletal Dysplasia [Improved to 26 mutations on genes: FGFR3 (Achondroplasia and Tanatophoric Dysplasia), COL2A1 (Achondrogenesis type II), SLC26A2 (Achondrogenesis type IB), CRTAP (Osteogenesis Imperfecta recessive type), LEPRE1 (Osteogenesis Imperfecta recessive type), and SOX9 (Campomelic Dysplasia)]
Molecular Diagnosis of Syndromic Congenital Hearing Loss [176 mutations on genes: CDH23, EYA1, GJB2,KCNE1, KCNQ1, MYO7A, PAX3, PCDH15, SIX1, SIX5, SLC26A4, USH1C, USH1G and WFS1]
Molecular Diagnosis of Thrombophilia and Warfarin Pharmacogenetics [15 mutations on genes: APOE Cys112Arg, APOE Arg158Cys, EPCR 4678G/C, Factor V Leiden, Factor II G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, PAI-1 -844 A>G, ACE Ins/Del, Beta-Fibrinogen -455G>A, Factor XIII Val34Leu, CYP2C9 and VKORC1]
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New Diagnostic Approaches
PND Plus+
1. Conventional PND (aneuploidies detection + karyotype)
2. Molecular Diagnosis of Metabolic Disorders by CGC Mutation Panel
3. Diagnosis Panel for Mental Retardation and Developmental Delay
4. Cystic Fibrosis
5. Fragile X Syndrome
Psychomotor Development Delay
1. Karyotype
2. Fragile X Syndrome
3. Diagnostic Panel for Subtelomeric Rearrangements
4. Diagnostic Panel for Common Microdelections
5. Molecular Diagnosis of Metabolic Disorders by CGC Mutation Panel
Tests for Increased Nuchal Translucency and Normal Karyotype
Molecular Diagnosis of Noonan Syndrome and other Genetically Related Syndromes by CGC Mutation Panel
DiGeorge Syndrome
Spinal Muscular Atrophy
21-Hydroxylase deficiency
Smith-Lemli-Optiz Syndrome
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