Chromosomal Microarray Testing
In Patients with Development Delay, Autism or other Congenital Anomalies
Additional ACMG Recommendations
September 2011
The ACMG recommendations also state that further studies are needed to determine the utility of chromosomal microarray for individuals with growth retardation, speech delay, and other indications, although we do certainly see testing ordered for these indications and, in our opinion, it is appropriate to consider testing in these clinical scenarios. Additionally, all results should be confirmed by a second test method, such as FISH analysis, parental evaluation is often necessary to interpret test results, and a clinical genetic evaluation and counseling is appropriate.
Additional ACMG Recommendations |
Jump to section:
- Introduction
- History of Cytogenetic Testing
- History of Cytogenetic Testing
- Chromosomal Microarray Testing
- Chromosomal Microarray Data
- 180K Oligonucleotide Microarray
- Limitations of Chromosomal Microarray
- Human Copy Number Variation (CNV)
- Interpretation of Results
- When to Order a Microarray?
- Additional ACMG Recommendations
- Pretest Counseling
- Pretest Counseling
- Post-Test Follow-Up
- Post-Test Follow-Up
- Post-Test Follow-Up
- The International Standards for Cytogenomic Arrays (ISCA) Consortium
- The ISCA Consortium
- Providing Clinical Information
- Conclusions
- Mayo Clinic Cytogenetics Laboratory
- Questions?
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