1
Q
What are specialist genetic testing services
A
Healthcare specialisms that test for a range of rare or common disorders as part of patient care pathway.
2
Q
Main genetic specialisms
A
- Endocrine
- Neurology
- Eyes
- Hearing loss
- Gastrohepatology
- Immunology
- Musculoskeletal
- Renal
- Skin
Path 19.03
flashcards
Decks in class (27)
# Cards
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20.03.01 Patterns of inheritance - Definitions40
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19.03.02 X-linked dominant and lethal9
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20.03.03 X-linked recessive22
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20.03.04 AR disorders - i.e. SMA36
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19.03.05 Haploinsufficiency21
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19.03.06 Gain of function11
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20.03.07 AD - dominant negative effect14
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20.03.08 Cystic Fibrosis42
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20.03.09 Fragile X and FMR1 related disorders25
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20.03.10 Imprinted chromosomes and syndromes17
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20.03.11 PWS/AS13
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19.03.12 Beckwith-Wiedemann and Russell-Silver syndrome16
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19.03.13 One gene, many diseases and one disease, many genes11
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19.03.14 Friedreich's ataxia (LoF)14
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20.03.15 Triplet repeat disorders - gain of function e.g. HD40
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20.03.16 Other repeats - polyalanine - FSHD22
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19.03.17 Mitochondrial inheritance13
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19.03.18 Chromosome breakage syndromes6
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20.03.19 Abnormal phenotypes in balanced karyotypes17
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20.03.20 Microdeletions/microduplication syndromes25
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20.03.21 Use of microarray for detection of idiopathic learning difficulties11
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19.03.22 Origin and significance of markers18
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20.03.23 Genetic treatments: mutation specific therapy22
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20.03.46 Specialist services (new topic)2
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Common constitutional diseases per chromosome24
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Chromosome Disorders184
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Analysis and follow-up38
