>
✔ 100% Money-Back Guarantee on Eligible Items
✔ Prices Displayed in Your Local Currency
✔ Final Price = No Surprise Import Fees
✔ Complimentary Insured Worldwide Shipping on Qualifying Orders
✔ Select Collector & Specialty Pieces May Require Secured Delivery Handling
by David Bourn (Author)
Chapter 1: Genetic testing, some themes and some basics
- Brief introduction to genetic testing.
- Themeso Complexity
o Risk and uncertainty
o DNA and identities
o Future promises and limitations
- Genetic basics
o Information storage and copying
o Chromosomes and inheritance patternso Genes in genomes (nuclear and mitochondrial)
o Transcription, translation and the genetic code
o Mutation
- Basic techniques of genetic testing
o DNA extraction
o Hybridisation
o PCR and DNA amplificationo Electrophoresis
o DNA sequencing
Chapter 2: Huntington disease, a severe autosomal recessive disorder
- Huntington disease (HD)
- Mutation mechanism and gain of function
- Trinucleotide repeat expansions
- Penetrance and genotype/phenotype correlation
- Anticipation
- Testing for HD and test metrics
- Rationales for testing- Laboratory error
- Ethical problems (sharing information)
Chapter 3: Autosomal recessive inheritance and cystic fibrosis
- Cystic fibrosis (CF)
- Spectrum of mutations
- Recessive disorders in populations (founder effect)
- Testing for CF- Rationales for testing including neonatal screening
- Prenatal diagnosis and ethical issues
- Genetics and therapy for CF
- Risk and uncertainty
Chapter 4: X-linked inheritance: a question of gender
- Chromosome number / balance (XX vs. XY) and X-inactivation
- DNA methylation and epigenetics
- DMD/BMD (genotype/phenotype correlation)
- Mosaicism- Sharing genetic information
- Androgen receptor gene and different phenotypes
- Genetics and gender
Chapter 5: Cancer genetics: acquired and inherited mutations
- Cancer as a genetic disease
- Tumour suppressors and oncogenes in the control of growth
- Somatic/germline distinction
- &
Back Jacket
Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences.
The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients.
The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
Author Biography
David Bourn, Ph.D., FRCPath, is a UK-based state registered clinical scientist and the head of an NHS Regional Genetics laboratory, who has worked in the NHS for more than 25 years. Prior to his involvement in diagnostic genetics, he spent some years in research, with his Ph.D. and the bulk of his postdoctoral work in the field of human molecular genetics. His links with Human Genetics Departments go back to the 1980s and in addition to his familiarity with the evolution of genetic testing over the past three decades, he has an enduring interest in the wider implications of this testing.
- In stock, ready to ship
- ✔ Authenticity Guaranteed — Verified Designer Goods
- ✔ Sourced from Authorized European/U.S. Luxury Distributors
- ✔ Secure Checkout — SSL Encrypted Payments
- ✔ Fast Global Delivery — 3–11 Business Days
- ✔ Easy Returns on Eligible Items
- ✔ 100% Money-Back Guarantee — Full Refund if Not Satisfied
AUTHENTICITY GUARANTEED
Reserved for you — complete your purchase to secure this piece.
OFFICIALLY AUTHORIZED RESELLER
Discover Officially Authorized Authentic Items at STORE7994.com - Certificates Available on Request!
Independently verified for store quality and customer safety.
Trust score: 91/100
All designer items offered by STORE 7994 are sourced from trusted luxury distributors and verified through independent authentication services.
Learn how STORE 7994 authenticates luxury items
Guaranteed Authentic — Includes Brand Documentation & Third-Party Verification Options.
Shipping information
- Free Shipping* on all orders over $300 USD to most countries* Estimated delivery: 2-5 business days Mon-Sat to U.S., CA, EU etc.
- Tracking available: DHL Express
- Store 7994 Shipping policy
- Global delivery in 3–9 business days (location dependent).
- Free Worldwide Shipping $300+. International duties & VAT are calculated by destination country and may be collected upon delivery. UK orders are subject to 20% import VAT upon delivery.
Our innovation isn’t just in the brands we carry — it’s in the way we connect them. From our automation engine that keeps collections globally updated to our commitment to authenticity-first presentation, STORE 7994 exists where timeless design meets modern precision.
Every product we offer is:
Elevated · Intentional · Exclusive · Authentic
STORE 7994 is an authorized reseller of luxury fashion houses. Certificates and proof of authenticity are available to brand owners and partners upon request.
Returns & Refunds
We want you to shop with confidence at STORE 7994. If your purchase does not meet expectations, eligible items may be returned under the conditions below.
Return Eligibility
Items must be unused, unworn, and in original condition with all tags, packaging, and accessories included. Items showing any signs of wear or damage will not be accepted.
Return Window
Return requests must be made within 14 days of delivery.
Return Shipping
Customers are responsible for return shipping costs unless the item is defective, damaged, or incorrect.
Luxury Items
Items valued over $1,000 may be subject to a 7% restocking fee upon approved return.
Non-Returnable Items
For hygiene and product integrity reasons, the following items are final sale once opened or used:
• Underwear
• Fragrances
• Any worn or used items
Made-to-Order Items
Custom-designed products, including STORE 7994 hoodies, are made exclusively for each customer and are final sale. These items are not eligible for return or exchange unless defective or incorrect.
If you receive a defective or incorrect item, please contact us and we will make it right.
International Shipping & Duties
Many of our products ship directly from trusted international partners. Any applicable customs duties or import taxes are calculated at checkout and are non-refundable, even if the item is returned.
Returns & Associated Fees
All approved returns are subject to a $24 return processing fee. For international orders, duties, taxes, and return fees will be deducted from the original payment.
Shipping Policy
Complimentary shipping is offered on orders over $300. Orders below this threshold are subject to standard shipping rates at checkout.
