Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
Abstract
:1. Introduction
2. Methods
2.1. Study Sample
2.2. Clinical Assessment and Diagnostic Investigation
2.3. Analysis
3. Results
Test | CMACount | KTCount | FRGXCount | |
---|---|---|---|---|
(% of Requested) | (% of Requested) | (% of Requested) | ||
Completed | 110 | 140 | 167 | |
Normal | 98 (89.1) | 135 (96.4) | 165 (98.8) | |
Variant reported | All | 12 (10.9) | 5 (3.5) | 2 (1.2) |
Causal | 6 (5.5) | 4 (2.9) | 2 (1.2) | |
NNT | All | 9.2 | 28 | 83.5 |
Causal | 18.3 | 35 | 83.5 | |
$ | $ | $ | ||
Cost Analysis | CPT | 593.85 | 361.35 | 102.00 |
CPF | 5443.63 | 10,117.8 | 8415.00 | |
CCF | 10,887.25 | 12,647.25 | 8415.00 |
4. Discussion
Patient | Sex | Abnormality | Cytogenetic breakpoints | Base pairs at breakpoints | Size of Deletion | Category | Siblings | Inheritance | OMIM Reference(s) | Implicated Gene | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | Deletion | Xp22.32 to p22.31 | 5,584,212–8,337,327 | 2.8 Mb | causal | 1 affected brother | maternal | #300427 | NLGN4 | [17] |
2 | M | Deletion | Xp22.32 to p22.31 | 5,584,212–8,337,327 | 2.8 Mb | causal | 1 affected brother | maternal | #300427 | NLGN4 | [17] |
3 | M | Deletion | Xp22.33 | 125,959–1,963,603 | 1.8 Mb | unknown | unknown | unknown | - | unknown | - |
4 | M | Deletion | 16p11.2 | 29,524,436–30,105,430 | 581 Kb | causal | unknown | de novo | #611913 | unknown | - |
5 | M | LCSH | - | - | - | non-causal | unknown | unknown | - | - | - |
6 | M | Deletion | 6p25.3 | 1,541,183–1,660,384 | 119 Kb | causal | non-carrier | de novo | #602884 | GMDS | [18,19] |
7 | M | Two duplications | 1q21.1; 15q11.2 | 144,962,948–146,296,190; 20,305,429–20,667,158 | 1.3 Mb; 356 Kb | unknown | unknown | unknown | - | unknown | [20,21,22] |
8 | M | Duplication | 22q11.21 | 17,370,128–19,790,009 | 2.4 Mb | causal | unknown | paternal | #608363 | unknown | [2] |
9 | M | Duplication | 9p13.12 | 14,710,658–15,458,007 | 747 Kb | causal | unknown | unknown | - | unknown | - |
10 | M | Deletion | 3q13.33 to 3q21.1 | 122,758,745–124,894,705 | 2.1 Mb | unknown | unknown | maternal | - | unknown | - |
11 | M | Deletion | Xp21.3 | 29,306,729–29,311,653 | 5 Kb | unknown | unknown | unknown | #300206; #300143 | IL1RAPL1 | [15,16,23] |
12 | M | LCSH | - | - | - | non-causal | unknown | unknown | - | - | - |
4.1. Pre-Test Probability of Genetic Testing in Autism
4.2. Description of Clinical Service
4.3. Identifying Study Population
4.4. Data Collection
4.5. Cost Analysis
4.6. Reporting and Classification of Genetic Findings
4.7. Learning Curve of CMA
5. Conclusions
Acknowledgments
Author Contributions
Conflicts of Interest
References
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Mordaunt, D.; Gabbett, M.; Waugh, M.; O'Brien, K.; Heussler, H. Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic. Children 2014, 1, 21-30. https://doi.org/10.3390/children1010021
Mordaunt D, Gabbett M, Waugh M, O'Brien K, Heussler H. Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic. Children. 2014; 1(1):21-30. https://doi.org/10.3390/children1010021
Chicago/Turabian StyleMordaunt, Dylan, Michael Gabbett, Melanie Waugh, Karen O'Brien, and Helen Heussler. 2014. "Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic" Children 1, no. 1: 21-30. https://doi.org/10.3390/children1010021