
The following tests do not require a NY exemption form to be performed at Ambry. Please note, any test not 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. A general patient consent form is mandatory on all New York approved tests.
If your test is not NY approved, please fill out the exemption form below.
| Test Code | ASSAY | Gene(s) | |
|---|---|---|---|
| Hereditary Cancer | |||
| 8820 | BreastNext NGS-Panel | ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, PALB2, PTEN, RAD50, RAD51C, STK11, TP53 | |
| 8824 | CancerNext NGS-Panel | APC, ATM, BARD1, BRIP1, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, SMAD4, STK11, TP53 | |
| 8822 | ColoNext NGS-Panel | APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53 | |
| 8830 | OvaNext NGS-Panel | ATM, BARD1, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, STK11, TP53 | |
| 4726 |
CDH1 Gene Sequence & Del/Dup |
CDH1 | |
| Lynch Syndrome | |||
| 8508 | MLH1 Gene Sequence & Del/Dup | MLH1 | |
| 8510 | MSH2 Gene Sequence & Del/Dup + EPCAM Del/Dup | MSH2, EPCAM | |
| 2240 | EPCAM Del/Dup | EPCAM | |
| 8512 | MSH6 Gene Sequence & Del/Dup | MSH6 | |
| 4646 | PMS2 Gene Sequence & Del/Dup | PMS2 | |
| Cancer Syndromes | |||
| 2866 | TP53 Gene Sequence & Del/Dup | TP53 | |
| 2106 | PTEN Gene Sequence & Del/Dup | PTEN | |
| 2646 | MEN1 Gene Sequence & Del/Dup | MEN1 | |
| 2766 | STK11 (Peutz-Jegher Syndrome) Gene Sequence & Del/Dup | STK11 | |
| 8604 | BMPR1A and SMAD4 (Juvenile Polyposis Syndrome) Gene Analysis & Del/Dup | BMPR1A, SMAD4 | |
| 2600 | VHL Gene Sequence | VHL | |
| 2604 | VHL Del/Dup | VHL | |
| 2606 | VHL Gene Sequence & Del/Dup | VHL | |
| 8726 | FAP (APC and MUTYH Gene Sequence & APC Del/Dup) | APC, MUTYH | |
| 3040 | APC Gene Sequence & Del/Dup | APC | |
| 4660 | MUTYH Gene Sequence | MUTYH | |
| 2360 | PALB2 Gene Sequence | PALB2 | |
| 5680 | PTCH1 Gene Sequence | PTCH1 | |
| 5682 | PTCH1 Deletion/Duplication | PTCH1 | |
| 5684 | PTCH1 Gene Sequence and Deletion/Duplication Analysis | PTCH1 | |
| Cardiovascular | |||
| 8850 | Arrhythmia Panel | AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43 | |
| 8848 | Long QT Syndrome Panel | AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1 | |
| 8842 | Brugada Syndrome Panel | CACNA1C, CACNA2D1, CACNB2, GPD1L, KCNE3, KCNJ8, SCN1B, SCN3B, SCN5A | |
| 8852 | Cardiomyopathy Panel | ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GLA, ILK, JPH2, JUP, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL | |
| 8844 | DCM Panel | ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, EMD, EYA4, ILK, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PDLIM3, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL | |
| 8846 | HCM Panel | ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CSRP3, DES, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, NEXN, PLN, PRKAG2, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | |
| 8840 | Pan Cardio Panel | ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GATA4, GLA, GPD1L, ILK, JAG1, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2.5, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TBX1, TBX5, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL | |
| Cystic Fibrosis | |||
| 1002 | Ambry Test®: 508 FirstTM | CFTR | |
| 1000 | Ambry Test: CFTR Gene Sequence Analysis | CFTR | |
| 1006 | Ambry Test: CFTR Amplified Gene Sequence Analysis Reflex Option to Deletion/Duplication | CFTR | |
| 1007 | Ambry Test: CFTR Amplified Gene Sequence Analysis Concurrent with Deletion/Duplication | CFTR | |
| 1004 | Ambry Test: CF Deletion/Duplication | CFTR | |
| 1010 | Ambry Test: TG Repeat | CFTR | |
| 1018 | CFTR Screening Panel (CF102) | CFTR | |
| Clinical Diagnostic Exome | |||
| 8814 | First-Tier Exome | ||
| 8816 | First-Tier Exome Reflex to CDE | ||
| 8800 | Clinical Diagnostic Exome | ||
| Pancreatitis | |||
| 8020 | Pancreatitis Panel: Gene Sequence Analysis | CFTR, PRSS1, SPINK1 | |
| 8022 | Pancreatitis Plus | CFTR,PRSS1,SPINK1, CTRC | |
| 8040 | Pancreatitis Panel: Gene Sequence Analysis and CFTR Deletion/Duplication | CFTR AMP, PRSS1, SPINK1 | |
| 1100 | PRSS1: Gene Sequence Analysis | PRSS1 | |
| 1120 | SPINK1: Gene Sequence Analysis | SPINK1 | |
| 1660 | CTRC: Gene Sequence Analysis | CTRC | |
| Pulmonology | |||
| 1300 | ABCA3: Gene Sequence Analysis | ABCA3 | |
| 1160 | Surfactant Protein B: Gene Sequence Analysis | SFTPB | |
| 1180 | Surfactant Protein C: Gene Sequence Analysis | SFTPC | |
| Other | |||
| 1220 | Canavan: ASPA Gene Sequence Analysis and Deletion/Duplication | ASPA | |
| 1240 | TAY-SACHS Plus: Gene Sequence Analysis | HEXA | |
| 1140 | Alpha-1 Antitrypsin: Gene Sequence Analysis | SERPINA1 | |
| 1600 | Glutaric Acidemia Type 1: Gene Sequence Analysis | GCDH | |
| 2140 | TERT Idiopathic Pulmonary Fibrosis: Gene Sequence Analysis | TERT | |
| 2120 | TERC Idiopathic Pulmonary Fibrosis: Gene Sequence Analysis | TERC | |
| 1040 | Beta Thalassemia Plus: Gene Sequence Analysis | HBB | |
| 1440 | Shwachman-Diamond Syndrome: Gene Sequence Analysis | SBDS | |
| 8660 | HHT Sequence (ACVRL1, ENG, Gene Sequence &Del/Dup, SMAD4 FGA) | ACVRL, ENG, and SMAD4 | |
| 1018 | CFTR Screening Panel (CF102) | CFTR | |
| 1580 | PHOX2B Gene Sequence Analysis | PHOX2B | |
| *Consent forms required for all New York samples |
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