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 Panels  
8836 BRCAPlus BRCA1, BRCA2, CDH1, PALB2, PTEN, TP53
8837 BRCAplus-Expanded ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
8835 GYNPlus BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53
8820 BreastNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, TP53
8830 OvaNext ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53
8822 ColoNext APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11,TP53
8042 PancNext APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53
5900 RenalNext BAP1, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL
5419  PGLFirst  SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127
5504 PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
8824 CancerNext APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53
8874 CancerNext-Expanded APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, MAX, 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, VHL.
  Cancer  
3040 APC sequencing and deletion / duplication APC
3042 APC single site analysis APC
3044 APC gene sequence APC
3046 APC deletion / duplication APC
8726 Adenomatous polyposis (APC and MUTYH sequence and deletion/duplication analysis) APC, MUTYH
8722 FAP PLUS Reflex Option (APC sequence and deletion/duplication analyses + MUTYH 2 mutation analysis with reflex to MUTYH full sequencing if only 1 mutation found) APC, MUTYH
5600 ATM single site analysis ATM
5602 ATM gene sequence ATM
5840 BARD1 single site analysis BARD1
5864 BRCA1 single site analysis BRCA1
5884 BRCA2 single site analysis BRCA2
5890 BRCA1/2 deletion / duplication only BRCA1, BRCA2
5892 BRCA Ashkenazi Jewish 3-site Mutation panel BRCA1, BRCA2
5894 BRCA Ashkenazi Jewish 3-site Mutation panel with reflex to BRCA1/2 Analysis if negative BRCA1, BRCA2
8870 BRCA Ashkenazi Jewish 3-site Mutation panel with reflex to BRCAPlus Analysis if negative ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, TP53
8838 BRCA1/2 sequencing and deletion / duplication BRCA1, BRCA2
8862 BRCA1/2 analysis, with reflex to BRCAPlus if negative BRCA1, BRCA2, CDH1, PTEN, TP53
6242 BRIP1 single site analysis BRIP1
  Juvenile Polyposis Syndrome (JPS)  
2822 BMPR1A specific site analysis BMPR1A
2820 BMPR1A gene sequence BMPR1A
1694 BMPR1A deletion / duplication BMPR1A
8604 BMPR1A and SMAD4 gene sequence and deletion / duplication BMPR1A, SMAD4
8602 JPS - Steps 1 and 2 (Step 1: BMPR1A and SMAD4 gene sequence Step2: BMPR1A and SMAD4 deletion/duplication) BMPR1A, SMAD4
1694 BMPR1A and SMAD4 deletion / duplication BMPR1A, SMAD4
1686 SMAD4 specific site analysis SMAD4
1685 SMAD4 gene sequence (JPS) SMAD4
4722 CDH1 specific site analysis CDH1
4720 CDH1 gene sequence CDH1
4724 CDH1 deletion / duplication CDH1
4726 CDH1 gene sequence and deletion / duplication CDH1
6200 CDK4 gene sequence CDK4
6202 CDK4 specific site analysis CDK4
4702 CDKN2A specific site analysis CDKN2A
4708 CDKN2A (p16INK4a)/ARF (p14ARF) Gene Sequence Analysis and CDK4 gene sequence CDKN2A, CDK4
4982 CHEK2 single site analysis CHEK2
4980 CHEK2 gene sequence with exon 9-10 deletion CHEK2
4984 CHEK2 exon 9-10 deletion CHEK2
6302 FH specific site analysis FH
6301 FH gene sequence & deletion / duplication (HLRCC) FH
6304 FH deletion / duplication (HLRCC) FH
5922 FLCN specific site analysis FLCN
5921 FLCN gene sequence (Birt-Hogg-Dubeé syndrome) & deletion / duplication FLCN
5924 FLCN deletion/duplication (Birt-Hogg-Dubé syndrome) FLCN
2640 MEN1 gene sequence MEN1
2642 MEN1 specific site analysis MEN1
2644 MEN1 deletion/duplication MEN1
2646 MEN1 gene sequence and deletion/duplication MEN1
8882 MET specific site analysis MET
6224 MITF specific site analysis MITF
6262 MRE11A specific site analysis MRE11A
4662 MUTYH specific site analysis MUTYH
4666 MUTYH partial gene analysis MUTYH
4661 MUTYH gene sequence and deletion / duplication MUTYH
4668 MUTYH deletion / duplication MUTYH
5780 NBN specific site analysis NBN
5700 NF1 gene sequence NF1
5702 NF1 deletion/duplication NF1
5704 NF1 gene sequence, with reflex to deletion/duplication NF1
5706 NF1 specific site analysis NF1
2360 PALB2 gene sequence PALB2
2362 PALB2 specific site analysis PALB2
2366 PALB2 gene sequence and deletion/duplication PALB2
2100 PTEN gene sequence PTEN
2102 PTEN specific site analysis PTEN
2104 PTEN deletion/duplication PTEN
2106 PTEN gene sequence and deletion/duplication PTEN
5800 RAD50 specific site analysis RAD50
5820 RAD51C specific site analysis RAD51C
5620 RAD51D gene sequence RAD51D
5622 RAD51D specific site analysis RAD51D
2680 MEN2 gene sequence RET
2682 MEN2 specific site analysis RET
2684 RET partial gene analysis RET
2686 RET partial gene analysis RET
1684 SMAD4 gene sequence SMAD4
1685 SMAD4 gene sequence SMAD4
1686 SMAD4 specific site analysis SMAD4
1694 SMAD4 deletion/duplication SMAD4
2760 STK11 gene sequence STK11
2762 STK11 specific site analysis STK11
2764 STK11 deletion/duplication STK11
2766 STK11 gene sequence and deletion/duplication STK11
2860 TP53 gene sequence TP53
2862 TP53 specific site analysis TP53
2864 TP53 deletion/duplication TP53
2866 TP53 gene sequence and deletion/duplication TP53
5928 TSC1 specific site analysis TSC1
5934 TSC2 specifc site analysis TSC2
2600 VHL gene sequence VHL
2602 VHL specific site analysis VHL
2604 VHL deletion/duplication VHL
2606 VHL gene sequence and deletion/duplication VHL
5680 PTCH1 gene sequence PTCH1
5682 PTCH1 deletion/duplication PTCH1
5684 PTCH1 gene sequence and deletion/duplication PTCH1
  Lynch/HNPCC  
8517 Lynch/HNPCC Concurrent: MLH1, MSH2, MSH6, PMS2 gene sequence and deletion/duplication + EPCAM deletion/duplication MLH1, MSH2, MSH6, EPCAM, PMS2
8515 Lynch/HNPCC Sequential: Step1: MLH1, MSH2, and MSH6 gene sequence and deletion / duplication + EPCAM deletion / duplication Step2: PMS2 gene sequence and deletion / duplication MLH1, MSH2, MSH6, EPCAM, PMS2
8518 Lynch/HNPCC Syndrome - MLH1, MSH2 & MSH6 gene sequence with MLH1, MSH2, MSH6 and EPCAM deletion / duplication MLH1, MSH2, MSH6, EPCAM
2202 MLH1 specific site analysis MLH1
2200 MLH1 gene sequence MLH1
8508 MLH1 gene sequence and deletion / duplication MLH1
8519 MLH1 deletion / duplication MLH1
2222 MSH2 specific site analysis MSH2
2220 MSH2 gene sequence MSH2
8510 MSH2 gene sequence and deletion / duplication + EPCAM deletion / duplication MSH2, EPCAM
8519 MSH2 deletion / duplication MSH2
2226 MSH2 inversion  
2240 EPCAM deletion / duplication EPCAM
2242 MSH6 specific site analysis MSH6
2840 MSH6 gene sequence MSH6
8512 MSH6 gene sequence and deletion / duplication MSH6
2246 MSH6 deletion / duplication MSH6
4642 PMS2 specific site analysis PMS2
4640 PMS2 gene sequence PMS2
4646 PMS2 gene sequence and deletion / duplication PMS2
4644 PMS2 deletion / duplication PMS2
  PGL/PCC  
5416 PGL/PCC- SDHB, SDHC, SDHD, SDHAF2 deletion/duplication SDHB, SDHC,SDHD, SDHAF2
5410 TMEM127 gene sequence TMEM127
5412 TMEM127 specific site analysis TMEM127
5520 MAX gene sequence MAX
5522 MAX specific site analysis MAX
5500 SDHA gene sequence SDHA
5502 SDHA specific site analysis SDHA
5398 SDHAF2 gene sequence SDHAF2
5400 SDHAF2 specific site analysis SDHAF2
5380 SDHB gene sequence SDHB
5382 SDHB single site analysis SDHB
5386 SDHC gene sequence SDHC
5388 SDHC single site analysis SDHC
5392 SDHD gene sequence SDHD
5394 SDHD single site analysis SDHD
General    
  Cardio  
8935 HCMFirst MYBPC3, MYH7
8936 HCMNext ACTC1, ACTN2, ANKRD1, CSRP3, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2,MYPN, NEXN, PLN, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, VCL
8883 HCMNext Reflex ACTC1, ACTN2, ANKRD1, CSRP3, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2,MYPN, NEXN, PLN, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, VCL
8884 DCMNext ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DMD, EYA4, FKTN, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, RAF1, RBM20, SCN5A, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TXNRD2, VCL
8886 CMNext without TTN ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD,
8887 CMNext with TTN ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, GLA, JPH2, JUP, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PKP2, PLN, PTPN11, RAF1, RBM20, RYR2, SCN5A, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, TXNRD2, VCL, TTN
8888 Rhythm First KCNH2, KCNQ1, SCN5A
8900 RhythmNext AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A,SNTA1, TGFB3, TMEM43, TRDN, TRPM4
8901 RhythmNext reflex AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TRDN, TRPM4
8902 CPVTNext ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN
8904 ARVDNext DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43
8906 LVNCNext ACTC1, LDB3/ZASP, TNNT2, TPM1
8910 Cardio Next without TTN ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATA4, GATAD1, GLA, GPD1L, HCN4, JAG1, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2.5, PKP2, PLN, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX5, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, TXNRD2, VCL
8911 Cardio Next with TTN ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATA4, GATAD1, GLA, GPD1L, HCN4, JAG1, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2.5, PKP2, PLN, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX5, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR, TXNRD2, VCL,TTN
  TAADNext  
8789 TAADNext ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
8781 FBN1 gene sequence and deletion/duplication FBN1
8783 FBN1 reflex to TAADNext ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, FBN1
5463 FBN1 single site analysis FBN1
8790 COL3A1 gene sequence and deletion/duplication COL3A1
8791 COL3A1 reflex to TAADNext ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, COL3A1
5462 COL3A1 specific site analysis COL3A1
  HHT  
8673 HHTFirst ACVRL1, ENG, SMAD4,GSA
8672 HHTNext ACVRL1, ENG, SMAD4, GDF2, RASA1,GSA
8671 HHTReflex ACVRL1, ENG, SMAD4, GSA,GDF2, RASA1
8674 GDF2 and RASA1 standalone gene sequence and deletion/duplication GDF,RASA1,GSA
1688 ACVRL1 specific site analysis ACVRL1
1690 ACVRL1 gene sequence ACVRL1
1693 ACVRL1 deletion/duplication ACVRL1
1682 ENG specific site analysis ENG
1689 ENG gene sequence ENG
1692 ENG deletion/duplication ENG
1684 SMAD4 gene sequence SMAD4
1686 SMAD4 specific site analysis SMAD4
1694 SMAD4 deletion/duplication SMAD4
  PCD  
8122 PCD and related disorders panel  
5582 DNAH11 specific site analysis  
1460 DNAH5 specific site analysis  
4080 OFD1 gene sequence  
4082 OFD1 specific site analysis  
1462 DNAI1 specific site analysis  
5560 RPGR specific site analysis  
  Cystic Fibrosis  
1000 CFTR gene sequence CFTR
1002 508 First (deltaF508 reflex to CFTR amplified) CFTR
1004 CFTR deletion/duplicaton CFTR
1006 CFTR Amplified (CFTR gene sequence with reflex to deletion/duplication) CFTR
1007 CFTR Amplified (CFTR gene sequence and deletion/duplication concurrent) CFTR
1010 CF TG Repeat (CFTR) CFTR
1018 CFTR Screening Panel (CF102) CFTR
2000 CFTR Screening Panel (CF33) CFTR
  Pancreatitis  
1100 PRSS1 gene sequence PRSS1
1102 PRSS1 specfic site analysis PRSS1
1120 SPINK1 gene sequence SPINK1
1122 SPINK1 specific site analysis SPINK1
1660 CTRC gene sequence CTRC
1662 CTRC specific site analysis CTRC
8040 Pancreatitis Panel (CFTR, PRSS1, SPINK1 gene sequence and CFTR deletion/duplication) CFTR, PRSS1, SPINK1
8020 Pancreatitis Panel (CFTR, PRSS1, SPINK1 gene sequence) CFTR, PRSS1, SPINK1
8022 Pancreatitis Panel (CFTR, PRSS1, SPINK1, CTRC gene sequence) CFTR, PRSS1, SPINK1, CTRC
  Neurololgy  
7011 EpiFirst-Fever CHD2, GABRA1, GABRB3, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1
7013 EpiFirst-IS ARX, CDKL5, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2, KCNT1, SCN2A, SCN8A, SIK1, SLC25A22, SPTAN1, STXBP1, TSC1, TSC2
7017 EpiFirst-Focal CRH, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B
7015 EpiFirst-Neonate ALDH7A1, KCNQ2, KCNQ3, KCNT1, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, STXBP1
7019 EpilepsyNext ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYRK1A, DYNC1H1, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2
7020 PMEFirst CSTB, EPM2A, NHLRC1
7022 PMENext ATP13A2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FOLR1, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1
7028  Neurodevelopment-Expanded  
7027 IDNext  
7023 AutismFirst  
7024  AutismNext  
7026 Rett/AngelmanNext  
7025  NCLNext  
2026 Rett syndrome (MECP2)  
7050 PPT1  
7051 TPP1  
7052 CTSD  
7054 CLN3  
4544 FMR1 repeat expansion analysis and methylation studies FMR1
2440 Angelman/Prader-Willi (15q) methylation studies  
7029 Angleman syndrome (15q methylation with reflex to UBE3A seq and del/dup UBE3A
  Exome  
9999 Exome  
9999R Exome Rapid  
5640 NGS specific site analysis (custom) exome  
  Legius syndrom/Neurofibromatosis type 1-like syndrome  
5720 SPRED1 gene sequence SPRED1
5722 SPRED1 deletion/duplication SPRED1
5724 SPRED1 gene sequence reflex to deletion/duplication SPRED1
5726 SPRED1 specific site analysis SPRED1
5700 NF1 Full gene sequencing NF1
5702 NF1 Deletion/Duplication NF1
5704 NF1 Gene Sequence reflex to deletion/duplication NF1
5706 NF1 specific site analysis NF1
5728 NF1 and SPRED1 gene sequence and deletion/duplication (concurrent) NF1, SPRED1
5730 NF1 and SPRED1 gene sequence and deletion/duplication (Reflex) NF1, SPRED1
  Pulmonology  
1160 Surfactant Protein B Gene Sequence SFTPB
1300 ABCA3 gene sequence ABCA3
1180 Surfactant Protein C Gene sequence SFTPC
8100 Surfactant Panel (ABCA3, SFTPB, SFTPC, gene sequence concurrent) ABCA3, SFTPB, SFTPC
1302 ABCA3 specific site analysis ABCA3
1162 SFTPB specific site analysis SFTPB
1182 SFTPC specific site analysis SFTPC
1582 PHOX2B Specific Site Analysis PHOX2B
1580 PHOX2B gene sequence PHOX2B
  Other  
8310 MODY (Maturity Onset Diabetes of the Young) HNF1B, HNF4A, PDX1, HNF1A, GCK
1502 HNF1B specific site analysis HNF1B
1482 HNF4A specific site analysis HNF4A
1406 PDX1 specific site analysis PDX1
1422 HNF1A specific site analysis HNF1A
1342 GCK specific site analysis GCK
1220 Canavan (ASPA gene sequence reflex deletion / duplication) ASPA
1226 Canavan (ASPA gene sequence and deletion / duplication) (concurrent) ASPA
1222 ASPA specific site analysis ASPA
1240 Tay-Sachs Plus (HEXA gene sequence) HEXA
1242 HEXA specific site analysis HEXA
1140 Alpha-1 Antitrypsin Deficiency (SERPINA1 gene sequence) SERPINA1
1600 Glutaric Acidemia Type 1: GCDH gene Sequence Analysis GCDH
1602 GCDH specific site analysis GCDH
8140 IPF Telomerase (TERT and TERC gene sequence) TERT, TERC
2140 TERT Idiopathic Pulmonary Fibrosis: gene sequence analysis TERT
2142 TERT specific site analysis (DC) TERT
1520 TERT gene sequence TERT
1522 TERT specific site analysis TERT
2120 TERC Idiopathic Pulmonary Fibrosis: gene sequence analysis TERC
2122 TERC specific site analysis (DC) TERC
1524 Idiopathic Pulmonary Fibrosis (TERC gene sequence) TERC
1526 TERC specific site analysis TERC
1040 HBB gene sequence HBB
1042 HBB specific site analysis HBB
1440 Shwachman- Diamond Syndrome: SBDS gene Sequence Analysis SBDS
1442 SBDS specific site analysis SBDS
1260 MCC for amniotic fluid culture or CVS (run concurrently with test)  
1262 MCC for maternal sample