Ambry Genetics reports results from clinical diagnostic exome™ testing of three patients.

Ambry Genetics has cataloged all of our NY approved tests and organized them below by disease. Please note any test not listed on this list needs a New York exemption form.
To obtain one or for more information please call Ambry Genetics Customer Service at 866-262-7943. If the test is NY approved, please fill out the following forms.
| Test Code | Test | SOP | Gene(s) |
|---|---|---|---|
| Cystic Fibrosis | |||
| 1002 | Ambry Test®: 508 FirstTM | Granted | CFTR |
| 1000 | Ambry Test: CF Gene Sequence Analysis | Granted | CFTR |
| 1006 | Ambry Test: CF Gene Sequence Analysis and Deletion/Duplication | Granted | CFTR |
| 1004 | Ambry Test: CF Deletion/Duplication | Granted | CFTR |
| 1010 | Ambry Test: TG Repeat | Granted | CFTR |
| Lynch Syndrome | |||
| 8508 | MLH1: Gene Sequence Analysis and Deletion/Duplication | Granted | MLH1 |
| 8510 | MSH2: Gene Sequence Analysis and Deletion/Duplication + EPCAM Deletion/Duplication | Granted | MSH2, EPCAM |
| 2240 | EPCAM: Deletion/Duplication | Granted | EPCAM |
| 8512 | MSH6: Gene Sequence Analysis and Deletion/Duplication | Granted | MSH6 |
| 4646 | PMS2: Gene Sequence Analysis and Deletion/Duplication | Granted | PMS2 |
| Pancreatitis | |||
| 8020 | Pancreatitis Panel: Gene Sequence Analysis | Granted | CFTR, PRSS1, SPINK1 |
| 8040 | Pancreatitis Panel: Gene Sequence Analysis and CFTR Deletion/Duplication | Granted | CFTR AMP, PRSS1, SPINK1 |
| 1100 | PRSS1: Gene Sequence Analysis | Granted | PRSS1 |
| 1120 | SPINK1: Gene Sequence Analysis | Granted | SPINK1 |
| Pulmonology | |||
| 1300 | ABCA3: Gene Sequence Analysis | Granted | ABCA3 |
| 1160 | Surfactant Protein B: Gene Sequence Analysis | Granted | SFTPB |
| 1180 | Surfactant Protein C: Gene Sequence Analysis | Granted | SFTPC |
| 8120 | PCD61: Specific Mutation Panel | Granted | DNAH5, DNAI1 |
| Other | |||
| 1220 | Canavan: ASPA Gene Sequence Analysis and Deletion/Duplication | Granted | ASPA |
| 1240 | TAY-SACHS Plus: Gene Sequence Analysis | Granted | HEXA |
| 1140 | Alpha-1 Antitrypsin: Gene Sequence Analysis | Granted | SERPINA1 |
| 1600 | Glutaric Acidemia Type 1: Gene Sequence Analysis | Granted | GCDH |
| 2140 | TERT Idiopathic Pulmonary Fibrosis: Gene Sequence Analysis | Granted | TERT |
| 2120 | TERC Idiopathic Pulmonary Fibrosis: Gene Sequence Analysis | Granted | TERC |
| 1040 | Beta Thalassemia Plus: Gene Sequence Analysis | Granted | HBB |
| 1440 | Shwachman-Diamond Syndrome: Gene Sequence Analysis | Granted | SBDS |
| *Consent forms required for all New York samples |
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