• Home
• /
• Procedures
• /
• MOLECULAR PATHOLOGY PROCEDURE, LEVEL 1 (EG, IDENTIFICATION OF SINGLE GERMLINE VARIANT [EG, SNP] BY TECHNIQUES SUCH AS RESTRICTION ENZYME DIGESTION OR MELT CURVE ANALYSIS) ACADM (ACYL-COA DEHYDROGENASE, C-4 TO C-12 STRAIGHT CHAIN, MCAD) (EG, MEDIUM CHAIN ACYL DEHYDROGENASE DEFICIENCY), K304E VARIANT ACE (ANGIOTENSIN CONVERTING ENZYME) (EG, HEREDITARY BLOOD PRESSURE REGULATION), INSERTION/DELETION VARIANT AGTR1 (ANGIOTENSIN II RECEPTOR, TYPE 1) (EG, ESSENTIAL HYPERTENSION), 1166A>C VARIANT BCKDHA (BRANCHED CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE) (EG, MAPLE SYRUP URINE DISEASE, TYPE 1A), Y438N VARIANT CCR5 (CHEMOKINE C-C MOTIF RECEPTOR 5) (EG, HIV RESISTANCE), 32-BP DELETION MUTATION/794 825DEL32 DELETION CLRN1 (CLARIN 1) (EG, USHER SYNDROME, TYPE 3), N48K VARIANT F2 (COAGULATION FACTOR 2) (EG, HEREDITARY HYPERCOAGULABILITY), 1199G>A VARIANT F5 (COAGULATION FACTOR V) (EG, HEREDITARY HYPERCOAGULABILITY), HR2 VARIANT F7 (COAGULATION FACTOR VII [SERUM PROTHROMBIN CONVERSION ACCELERATOR]) (EG, HEREDITARY HYPERCOAGULABILITY), R353Q VARIANT F13B (COAGULATION FACTOR XIII, B POLYPEPTIDE) (EG, HEREDITARY HYPERCOAGULABILITY), V34L VARIANT FGB (FIBRINOGEN BETA CHAIN) (EG, HEREDITARY ISCHEMIC HEART DISEASE), -455G>A VARIANT FGFR1 (FIBROBLAST GROWTH FACTOR RECEPTOR 1) (EG, PFEIFFER SYNDROME TYPE 1, CRANIOSYNOSTOSIS), P252R VARIANT FGFR3 (FIBROBLAST GROWTH FACTOR RECEPTOR 3) (EG, MUENKE SYNDROME), P250R VARIANT FKTN (FUKUTIN) (EG, FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY), RETROTRA

MOLECULAR PATHOLOGY PROCEDURE, LEVEL 1 (EG, IDENTIFICATION OF SINGLE GERMLINE VARIANT [EG, SNP] BY TECHNIQUES SUCH AS RESTRICTION ENZYME DIGESTION OR MELT CURVE ANALYSIS) ACADM (ACYL-COA DEHYDROGENASE, C-4 TO C-12 STRAIGHT CHAIN, MCAD) (EG, MEDIUM CHAIN ACYL DEHYDROGENASE DEFICIENCY), K304E VARIANT ACE (ANGIOTENSIN CONVERTING ENZYME) (EG, HEREDITARY BLOOD PRESSURE REGULATION), INSERTION/DELETION VARIANT AGTR1 (ANGIOTENSIN II RECEPTOR, TYPE 1) (EG, ESSENTIAL HYPERTENSION), 1166A>C VARIANT BCKDHA (BRANCHED CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE) (EG, MAPLE SYRUP URINE DISEASE, TYPE 1A), Y438N VARIANT CCR5 (CHEMOKINE C-C MOTIF RECEPTOR 5) (EG, HIV RESISTANCE), 32-BP DELETION MUTATION/794 825DEL32 DELETION CLRN1 (CLARIN 1) (EG, USHER SYNDROME, TYPE 3), N48K VARIANT F2 (COAGULATION FACTOR 2) (EG, HEREDITARY HYPERCOAGULABILITY), 1199G>A VARIANT F5 (COAGULATION FACTOR V) (EG, HEREDITARY HYPERCOAGULABILITY), HR2 VARIANT F7 (COAGULATION FACTOR VII [SERUM PROTHROMBIN CONVERSION ACCELERATOR]) (EG, HEREDITARY HYPERCOAGULABILITY), R353Q VARIANT F13B (COAGULATION FACTOR XIII, B POLYPEPTIDE) (EG, HEREDITARY HYPERCOAGULABILITY), V34L VARIANT FGB (FIBRINOGEN BETA CHAIN) (EG, HEREDITARY ISCHEMIC HEART DISEASE), -455G>A VARIANT FGFR1 (FIBROBLAST GROWTH FACTOR RECEPTOR 1) (EG, PFEIFFER SYNDROME TYPE 1, CRANIOSYNOSTOSIS), P252R VARIANT FGFR3 (FIBROBLAST GROWTH FACTOR RECEPTOR 3) (EG, MUENKE SYNDROME), P250R VARIANT FKTN (FUKUTIN) (EG, FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY), RETROTRA