New York Approved

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   
8042 PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, EPCAM
5504 PGLNext MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
5900 RenalNext FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL, EPCAM
8836 BRCAplus-Panel BRCA1, BRCA2, CDH1, PTEN, TP53
8835 GYNplus BRCA1, BRCA2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, TP53
8820 BreastNext NGS-Panel ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, PALB2, PTEN, RAD50, RAD51C, TP53
8824 CancerNext NGS-Panel APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CHEK2,  EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, SMAD4, STK11, TP53
8874 CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FH, FLCN, MAX, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, TSC1, TSC2, and VHL.
8822 ColoNext NGS-Panel APC, BMPR1A, CDH1, CHEK2,  EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53
8830 OvaNext NGS-Panel ATM, BARD1, BRCA1, BRCA2, 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  
5419 PARAGANGLIOMA-PHEOCHROMOCYTOMA (PGL-PCC) SYNDROME SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX
8838 BRCA1/2 Gene Sequencing and Deletion/Duplication Analysis(Concurrent) BRCA1, BRCA2
5890 BRCA1/2 Deletion/Duplication Analysis BRCA1, BRCA2
2866 TP53 Gene Sequence & Del/Dup TP53
2106 PTEN Gene Sequence & Del/Dup PTEN
2646 MEN1 Gene Sequence & Del/Dup MEN1
2680 MEN2 Gene sequence analysis RET
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 & Del/Dup)
APC, MUTYH
3040 APC Gene Sequence & Del/Dup APC
4660 MUTYH Gene Sequence & Del/Dup MUTYH 
5700 NF1 Full gene sequence
(Neurofibromatosis type1)
NF1
5702 NF1 Del/Dup
(Neurofibromatosis type1)
NF1
5704 NF1 reflex to Del/Dup
(Neurofibromatosis type1)
NF1
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
Testing Temporarily suspended
 
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
1580 PHOX2B Gene Sequence Analysis PHOX2B
  Other  
5720 SPRED1 Gene sequence
(legius syndrome/Neurofibromatosis type 1-like syndrome)
SPRED1
5722 SPRED1 del/dup
(legius syndrome/Neurofibromatosis type 1-like syndrome)
SPRED1
5724

SPRED1 Gene Sequence reflex to del/dup
(legius syndrome/Neurofibromatosis type 1-like syndrome)

 

SPRED1
5728 NF1 and SPRED1
Gene Sequence and del/dup (concurrent)
NF1, SPRED1
5730 NF1 and SPRED1
Gene Sequence and del/dup (reflex)
NF1, SPRED1
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
1260 MCC For amniotic fluid culture or
CVS (run concurrently with test)      
 
1262 MCC  for maternal sample  
  *Consent forms required for all New York samples