The DNA lab is happy to receive blood from any patient for DNA extraction for storage: DNA can be stored whether or not testing is available or considered appropriate at the time (see below). It is the responsibility of the referring clinician to ensure that appropriate consent has been obtained and documented.<\/p>\n\n\n\n
Only a restricted range of tests are available without prior discussion with Clinical Genetics:<\/strong><\/p>\n\n\n\n Any paediatrician based in South-East Scotland can request tests for Angelman \/ Prader-Willi syndromes and testing for confirmed Developmental Delay , including Fragile X syndrome testing (see below).<\/p>\n\n\n\n Diagnostic investigation of an abnormality in neurocognitive development is one of the most common reasons for referral to the genetic laboratory services. Almost all of these referrals come from paediatric services, in particular, community child health, paediatric neurology and general paediatrics. <\/p>\n\n\n\n Many different terms are used to describe this common clinical presentation including learning disability, mental handicap and global developmental delay. <\/p>\n\n\n\n We now offer a microarray test to investigate chromosomes for deletions and duplications in patients that fit our criteria (see Cytogenetic’s page<\/a>). This test can detect the majority of known microdeletion and microduplication syndromes including;<\/p>\n\n\n\n All requests for abnormal neurocognitive development testing should be sent to Cytogenetics for Microarray testing (samples will also be forwarded to Molecular department for Fragile X testing if appropriate).<\/p>\n\n\n\n If a specific syndrome is suspected this should be noted on the request form. We also request that some indication of whether the learning disability is mild, moderate or severe is provided if possible.<\/p>\n\n\n\n Referral to clinical genetics is recommended if:<\/em><\/em><\/p>\n\n\n\n OR<\/p>\n\n\n\n Testing for a number of distinct conditions that have a common underlying mechanism of expansion of triplet repeats (Huntington disease, spinocerebellar ataxias, myotonic dystrophy) is available to regional neurologists. Please note that referral to Clinical Genetics is required, prior to testing, in the case of a known family history of these diseases and is recommended in others.<\/p>\n\n\n\n A request for urgent DNA testing for infantile SMA and\/or myotonic dystrophy that is required to confirm a clinical diagnosis in a floppy baby can be submitted by any regional paediatrician. Other tests, e.g. for carrier status with a positive family history, should be discussed in advance with Clinical Genetics.<\/p>\n\n\n\n Samples are accepted from the Scottish Haemophilia Centres and associated clinics for a number of disorders associated with heritable coagulation and platelet disorders. Genetic testing available includes: <\/p>\n\n\n\n Testing methodologies include sanger sequencing, next generation sequencing, MLPA dosage kits and inversion analysis, as appropriate. In addition, a Bleeding & Platelet gene panel provides testing for a range of coagulation related genetic disorders and is used for large genes and referrals with more than one candidate gene.<\/p>\n\n\n\n Clinical Genetics (0131 537 1116) should be consulted before requesting any test other than those noted in the previous section.<\/p>\n\n\n\n A number of other tests are available, either in our lab or <\/p>\n\n\n\n those of other members of the Scottish Molecular Genetics Consortium<\/a>: <\/p>\n\n\n\nDevelopmental Delay\/ Fragile X syndrome
Angelman \/ Prader-Willi syndrome<\/h4>\n\n\n\nDevelopmental delay <\/h4>\n\n\n\n
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Triplet repeat disorders<\/h4>\n\n\n\n
Criteria for testing, using Huntington Disease as an example, can be found on the Testing symptomatic patients for Huntington Disease<\/a> page.<\/p>\n\n\n\nInfantile Spinal Muscular Atrophy (SMA) and\/or Myotonic Dystrophy testing<\/h4>\n\n\n\n
Heritable Bleeding, Platelet & Thrombotic Disorders<\/h4>\n\n\n\n
The laboratory is a member of the UK Haemophilia Centre Doctors Organisation (UKHCDO) Genetics Laboratory Network, which provides a national network of quality genetic diagnostic services for patients families with inherited bleeding and thrombotic disorders.
Samples should be accompanied by a Molecular Haematology request form<\/a> and UKHCDO genetic testing consent form<\/a> or a genetic lab request form, which contains the same record of discussion.<\/p>\n\n\n\n\n
Other DNA tests<\/h4>\n\n\n\n
Other diagnostic laboratory tests<\/h4>\n\n\n\n