EMQN

The RCPAQAP are delighted to be partnered with the EMQN for the provision of their External Quality Assessment (EQA) or Proficiency Testing (PT) schemes.

The EMQN schemes are designed to test the whole analytical process of a molecular diagnostics laboratory including the ability to interpret data in the light of clinical information supplied with a referral, and to produce a clear and accurate report.

As a result of this partnership, customers are now able to enrol in EMQN’s programs through the RCPAQAP customer portal, myQAP. This offers the following advantages:

  • The convenience of being able to enrol in both company’s programs via our customer portal, myQAP
  • A reduction in importation fees for Australasian laboratories

For more information on the EMQN schemes offered please visit their website: http://www.emqn.org/emqn/Home

For all general enquiries, please contact the EMQN directly at office@emqn.org

EMQN Product Categories

  • EMQN – Germline mutation
  • EMQN – Somatic mutation
  • EMQN – Pharmacogenetic
  • EMQN – Technical

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

Product details last updated on January 1, 1970

Beckwith-Wiedemannand 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.

Product details last updated on August 15, 2019

Cardiac 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.

Product details last updated on August 13, 2019

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.

Product details last updated on January 1, 1970

Congenital Adrenal Hypoplasia

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the CYP21A2 gene

Product details last updated on January 1, 1970

DNA Sequencing – NGS (vGermline)

g.DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 1 sample per survey

Tests

DNA Sequencing – NextGen (vGermline)

Product details last updated on August 15, 2019

DNA Sequencing – NGS (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)

Product details last updated on August 15, 2019

DNA Sequencing – Sanger

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 4 samples per survey

Tests

DNA Sequencing (gene independent)

Product details last updated on August 16, 2019

Duchenne / Becker Muscular Dystrophy

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the Dystrophin gene

Product details last updated on January 1, 1970

Familial Adenomatous Polyposis Colon Cancer

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the APC gene

Product details last updated on January 1, 1970

Familial autosomal dominant hypercholesterolemia

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the LDLR, APOB and PCSK9 genes

Product details last updated on January 1, 1970

Familial SHOX-related disorders

DNA (in TE Buffer)

Frequency / Number of samples

1 survey / 3 samples per survey

Tests

Mutations in the SHOX gene

Product details last updated on January 1, 1970