Postnatal constitutional copy number variants (CNV) detection
Postnatal constitutional CNV detection - >50kb CNV loss and/or gain.
PURPOSE OF PROGRAMME:
Analysis and interpretation of copy number changes in postnatal samples: DNA for array or NGS studies.
Provided in collaboration with EMQN
|dna extracted from postnatal blood|
MATERIAL PROVIDED: DNA in TE buffer
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 2
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Copy number variant detection to genome wide resolution
Details of the performance criteria for this programme can be obtained from UK NEQAS Genomics (GenQA) directly.
Telephone: +44 (0) 131 2426898
GenQA (Genomics Quality Assessment) provides external quality assessment (EQA) / proficiency testing (PT) to the genomics community worldwide. GenQA EQAs cover the entire clinical genomics service from patient counselling, sample preparation, testing processes, results interpretation and reporting. Laboratories and individual clinicians have access to more than 100 unique EQAs available for a range of rare and inherited disorders and acquired diseases. Please click here for an overview of GenQA