Services

Test Method

Targeted mutation analysis of Achondroplasia (c.1138G>A and c.1138G>C)

PCR followed by Sanger sequencing

Targeted mutation analysis of Hypocondroplasia (c.1620C>A and c.1620C>G)

PCR followed by Sanger sequencing

Targeted mutation analysis of Apert syndrome
(c.755_756delCGinsTT, c.755C>G, c.756_758delGCCinsCTT and c.758C>G)

PCR followed by Sanger sequencing

Targeted mutation analysis of Gilbert syndrome (c.-41_-40dupTA)

PCR followed by Sanger sequencing

Targeted mutation analysis of Sickle cell disease (c.20A>C)

PCR followed by Sanger sequencing

Targeted mutation analysis of Thanatophoric dysplasia type I (c.742C>T and c.1118A>G)

PCR followed by Sanger sequencing

Targeted mutation analysis of Thanatophoric dysplasia type II (c.1948A>G and c.1949A>T)

PCR followed by Sanger sequencing

Targeted mutation analysis of Factor V Leiden (c.1601G>A)

PCR followed by Sanger sequencing

Targeted mutation analysis of any common single variant

PCR followed by Sanger sequencing

Targeted mutation analysis of any unique single variant

PCR followed by Sanger sequencing

Mutation analysis of Spinal muscular atrophy

PCR - RFLP

Mutation analysis of Common microdeletions

MLPA followed by fragment analysis

Mutation analysis of Angelman syndrome/ Prader Willi syndrome

MLPA followed by fragment analysis

Mutation analysis of Spinal muscular atrophy by MLPA (or carrier testing)

MLPA followed by fragment analysis

Mutation analysis of Duchenne muscular dystrophy

MLPA followed by fragment analysis

Rapid aneuploidy test for chromosomes 13, 18 and 21 & detection of maternal cell contamination

QF-PCR followed by fragment analysis

Mutation analysis of beta thalassemia (sequencing the coding regions and including 619 bp
deletion detection, sequencing of reported variants in promoter and intronic regions as necessary)

PCR followed by Sanger sequencing

Mutation analysis of Rett syndrome

PCR followed by Sanger sequencing

Mutation analysis of Oculocutaneous albinism type I (tyrosinase)

PCR followed by Sanger sequencing

Mutation analysis of Deafness, autosomal recessive 1A (connexin 26)

PCR followed by Sanger sequencing

Mutation analysis of arthropathy, progressive pseudorheumatoid, of childhood

PCR followed by Sanger sequencing

Mutation analysis of any common gene with ≤5 exons

PCR followed by Sanger sequencing

Mutation analysis of any unique gene with ≤5 exons

PCR followed by Sanger sequencing

Mutation analysis of campomelic dysplasia

PCR followed by Sanger sequencing

Mutation analysis of transcobalmin 2 deficiency

PCR followed by Sanger sequencing

Mutation analysis of any common gene with ≤10 exons

PCR followed by Sanger sequencing

Mutation analysis of GM1 gangliosidoses (sequencing the hotspots and the entire gene only if necessary)

PCR followed by Sanger sequencing

Mutation analysis of Morquio A disease (sequencing the hotspots and the entire gene only if necessary)

PCR followed by Sanger sequencing

Exome sequencing (CREV2 capture kit)

Next generation sequencing