Reporting

Question 1

What information should be included on a array CGH report?

Answer 1

ISCN code
Textual description of the finding
Gender of the patient “No other imbalances were detected in an apparently female/male profile”
Tissue type tested
Recommendations for follow-up - parental bloods (interpretation/inheritance)
Recommendation for referral to genetics once inheritance analysis completed
Size of imbalance
Gene content
Any associated diseases
Inheritance (once known) - dn, mat, pat

Question 2

What is the target TAT for a postnatal routine aCGH result?

Answer 2

4 weeks

Question 3

What is the target TAT for a prenatal aCGH

Answer 3

21 days

Question 4

What banding quality is required for:
Postnatal routine
Prenatal Abscan
Prenatal MSS, inc risk

Which bands designate quality?

Answer 4

Band 6 - 5q31.2 distinct, 8p21.2 visible, 2 dark bands on 11pter, 22q13.2 distinct
Band 5 - 4 bands on 18, 3 bands on 11p, 14q32 distinct, 2 bands on 7qter
Band 4 - 2 bands 9p, 3 bands 4q, 3 bands 5q

Question 5

What is the target TAT for prenatal rapid aneuploidy screen?

Answer 5

3 days

Question 6

What is the target TAT for urgent postnatal karyotyping/aneuploidy screen? What classes as urgent?

Answer 6

3 days.

<1 month old

Question 7

What is the target TAT for new leukaemia referrals…
FISH/rapid screen
Karyotype preliminary report?
Final report?

Answer 7

3 days
14 days
21 days