Tests For Which Buccal Brushes Cannot Be Used
| Androgen Insensitivity Syndrome | AR |
| Axenfeld-Rieger Syndrome | FOXC1, PITX2 |
| Congenital and Cyclic Neutropenia* | ELA2* |
| Cowden s.,BRR syndrome, PTEN Hamartoma tumor s. | PTEN |
| Dopa-Responsive Dystonia | GCH1 |
| Duane-Radial-Ray syndrome | SALL4 |
| Gorlin Syndrome | PTCH |
| Hereditary Angioedema | C1INH |
| Holoprosencephaly | SHH, SIX3, TGIF, ZIC2 |
| Hypohidrotic Ectodermal Dysplasia, X-Linked | EDA1 |
| Peutz-Jeghers syndrome | STK11 |
| Multiple Endocrine Neoplasia | MEN1 |
| Nemaline Myopathy | ACTA1 |
| Pseudoachondroplasia / Multiple Epiphyseal Dysplasia | COMP |
| Rubinstein-Taybi Syndrome | CREBBP |
| Townes-Brocks syndrome | SALL1 |
CopyDx SINGLE GENE qPCR TESTS (all)
GenomeDx OLIGO ARRAY CGH TEST
Please note that the minimum age for which we can accept buccal brush specimens in infants is 6 months. 1-2 mL of whole blood in EDTA (purple top tube) is required for babies under 6 months of age.
*For ELA2 testing in Congenital and Cyclic Neutropenia, blood samples are preferred not required. After BMT or transfusion buccal brushes are clearly indicated.
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