EMQN

Arrhythmias

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

As testing approaches are still not standardized and vary between laboratories, the exact list of genes to be tested is not specified.

Autosomal Dominant Polycystic Kidney disease

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the PKD1 and PKD2 genes

Beckwith-Wiedemann & Silver-Russell syndromes

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

BWS: Maternal hypomethylation at ICR2 (KCNQ1OT1), hypermethylation at maternal ICR1 (H19), copy number variants, segmental mosaic UPD11pat, and maternallyinherited mutations of CDKN1C. SRS: Paternal methylation at ICR1, CNVs simulating maternalisation of ICR1, UPD7mat, other rare imprinting anomalies, and diverse CNVs.

Breast / Ovarian Cancer, familial (Full version)

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the BRCA1 and BRCA2 genes. New: other clinically relevant genes may also be included but performance criteria will only apply to the BRCA genes this year.

Breast / Ovarian Cancer, familial (Genotyping-only)

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the BRCA1 and BRCA2 genes. New: other clinically relevant genes may also be included but performance criteria will only apply to the BRCA genes this year.

Charcot-Marie-Tooth Disease

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutation testing in the PMP22 (deletion /duplication) and GJB1 genes.

Congenital Adrenal Hypoplasia

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the CYP21A2 gene

Constitutional Microarray Analysis (Microarrays /aCGH)

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 2 samples per survey

Tests

Genomic deletions and duplications

DNA Sequencing – NextGen (vGermline)

g.DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 1 sample per survey

Tests

DNA Sequencing – NextGen (vGermline)

DNA Sequencing – NextGen (vSomatic)

g.DNA sample derived from FFPE material. Matching control g.DNA sample also included.

Frequency / Number of samples

1 survey / 1 sample per survey

Tests

DNA Sequencing – NextGen (vSomatic)

DNA Sequencing – Sanger – Data Quality Assessment only

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 4 samples per survey

Tests

DNA Sequencing (gene independent)

DNA Sequencing – Sanger – Full version

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 4 samples per survey

Tests

DNA Sequencing (gene independent)