|
Acid Sphingomyelinase Deficiency |
Niemann-Pick Disease Types A & B |
SMPD1 |
|
Alagille Syndrome |
Alagille AMPLIFIED™ |
JAG1 |
|
Alpha-1-Antitrypsin Deficiency |
Alpha-1-Antitrypsin Deficiency |
SERPINA1 |
|
Amyotrophic Lateral Sclerosis (ALS) |
Amyotrophic Lateral Sclerosis (ALS) |
ANG, FIG4, FUS, SOD1, TARDBP |
|
Andermann Syndrome |
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) |
SLC12A6 |
|
Angelman Syndrome |
Angelman Syndrome |
SNRPN, UBE3A |
|
Angelman Syndrome - like |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
Angelman-like Syndrome, X-Linked |
Angelman-like Syndrome, X-Linked |
SLC9A6 |
|
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) |
Arrhythmia Panels |
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 |
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) |
Cardiomyopathy Panels |
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GLA, ILK, JPH2, JUP, LAMP2, LDB3, 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 |
|
Ashkenazi Associated Diseases |
Ashkenazi Jewish FlexPanel |
|
|
Ataxia-telangiectasia |
ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility |
ATM |
|
ATM-breast cancer susceptibility |
ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility |
ATM |
|
Attenuated FAP (AFAP) |
APC Amplified |
APC |
|
Autism / Autism spectrum disorder |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
Autism Spectrum Disorders |
Fragile X, 180K Oligo Array & SNP+CGH Array |
|
|
Autism/Autism Spectrum Disorder |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
Autism/Autism Spectrum Disorder |
Microarrays: SNP+CGH Array and 180K Oligo Array |
|
|
Bannayan-Riley-Ruvalcaba syndrome |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
Beta Thalassemia |
Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia) |
HBB |
|
Biotinidase Deficiency |
Biotinidase Deficiency |
BTD |
|
Breast cancer, Familial |
PALB2-Related Cancer |
PALB2 |
|
Brugada syndrome (Brugada) |
Arrhythmia Panels |
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 |
|
Canavan Disease |
Canavan Disease |
ASPA |
|
Canavan Disease |
Canavan Gene Sequence and Deletion/Duplication Analysis |
ASPA |
|
Cancer, Breast |
BreastNext |
ATM, BARD1, BRIP1, MRE11A, NBN, PALB2, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53 |
|
Cancer, Breast, Colon, Uterine, Ovarian, Other |
CancerNext |
ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, PALB2, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4 |
|
Cancer, Colon |
ColoNext |
CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4 |
|
Cancer, Ovarian, Breast Uterine |
OvaNext |
ATM, BARD1, BRIP1, MRE11A, NBN, PALB2, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Cardiac channelopathies |
Arrhythmia Panels |
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 |
|
Cardiovascular Disorders |
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, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2.5, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TBX1, TBX5, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL |
|
Carnitine Palmitoyltransferase II Deficiency |
Carnitine Palmitoyltransferase II Deficiency |
CPT2 |
|
Catecholaminergic polymorphic ventricular tachycardia (CPVT) |
Arrhythmia Panels |
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 |
|
Cerebral Cavernous Malformations (CCM) |
Cerebral Cavernous Malformations (CCM) |
KRIT1, CCM2, PDCD10 |
|
CHARGE Syndrome |
CHARGE Syndrome |
CHD7 |
|
CHEK2-Related Cancer |
CHEK2-Related Cancer |
CHEK2 |
|
Chromosomal Microarray |
Microarrays: SNP+CGH Array and 180K Oligo Array |
|
|
Colon Cancer |
Familial Adenomatous Polyposis Panel |
|
|
Congenital Central Hypoventilation Syndrome |
Congenital Central Hypoventilation Syndrome |
PHOX2B |
|
Congenital Hyperinsulinism, GLUD1-Related |
GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism) |
GLUD1 |
|
Congenital Hyperinsulinism, KCNJ11-Related |
Congenital Hyperinsulinism, KCNJ11-Related Diabetes |
KCNJ11 |
|
Cowden Syndrome |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
Cutaneous Malignant Melanoma Syndrome |
Malignant Melanoma CDKN2A(p16INK4a)/ARF(p14ARF) |
CDKN2A |
|
Cystic Fibrosis |
Cystic Fibrosis |
CFTR |
|
Cystic Fibrosis |
Cystic Fibrosis Testing |
CFTR |
|
Cystic Fibrosis |
Cystic Fibrosis Transmembrane Regulatory (CFTR) Gene (CF 102) |
|
|
Developmental Delay |
Fragile X, 180K Oligo Array & SNP+CGH Array |
|
|
Developmental Delay |
Microarrays: SNP+CGH Array and 180K Oligo Array |
|
|
Diamond-Blackfan Anemia |
Diamond-Blackfan Anemia |
RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26 |
|
DICER1 Syndrome |
DICER1 Genetic Mutation Analysis |
DICER1 |
|
DICER1 Syndrome |
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome |
DICER1 |
|
Dilated Cardiomyopathy (DCM) |
Cardiomyopathy Panels |
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GLA, ILK, JPH2, JUP, LAMP2, LDB3, 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 |
|
Dyskeratosis Congenita |
Dyskeratosis Congenita |
DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53 |
|
Dysmorphic Features |
Fragile X, 180K Oligo Array & SNP+CGH Array |
|
|
Dysmorphism |
Microarrays: SNP+CGH Array and 180K Oligo Array |
|
|
Fabry Disease |
Fabry Disease |
GLA |
|
Factor V-Leiden |
Thrombophilia FlexPanel |
F5, F2, MTHFR |
|
Familial Adenomatous Polyposis (FAP) |
APC Amplified |
APC |
|
Familial Aortic Aneurysm (FAA) |
Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel |
ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 |
|
Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) |
Malignant Melanoma CDKN2A(p16INK4a)/ARF(p14ARF) |
CDKN2A |
|
Familial Hypercholesterolemia |
Familial Hypercholesterolemia |
APOB, LDLR, PCSK9 |
|
Familial Mediterranean Fever |
Familial Mediterranean Fever |
MEFV |
|
Familial Medullary Thyroid Carcinoma (FMTC) |
Multiple Endocrine Neoplasia Type 2 (MEN2) |
RET |
|
Fanconi Anemia, PALB2-Related |
PALB2-Related Cancer |
PALB2 |
|
Fragile X Syndrome |
Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) |
FMR1 |
|
FRAXE Intellectual Disability |
FRAXE (FMR2) DNA Analysis |
FMR2 |
|
Gardner Syndrome |
APC Amplified |
APC |
|
Gaucher Disease |
Gaucher Disease |
GBA |
|
Gaucher Disease |
Gaucher Disease |
GBA |
|
Glutaric Acidemia Type 1 |
Glutaric Acidemia Type 1 |
GCDH |
|
Glutathione synthetase deficiency (GS) |
Glutathione synthetase deficiency (GS) |
GSS |
|
Glycogen Storage Disease Type IA |
Glycogen Storage Disease Types 1A & 1B |
SLC37A4 |
|
Glycogen Storage Disease Type IB |
Glycogen Storage Disease Types 1A & 1B |
SLC37A4 |
|
Gorlin syndrome |
PTCH1/Nevoid Basal Cell-Carcinoma Syndrome |
PTCH1 |
|
Hereditary Angioedema |
HAE AMPLIFIED (SERPING1) |
SERPING1 |
|
Hereditary Breast Cancer |
BreastNext |
ATM, BARD1, BRIP1, MRE11A, NBN, PALB2, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53 |
|
Hereditary Breast, Ovarian, and/or Uterine Cancer |
OvaNext |
ATM, BARD1, BRIP1, MRE11A, NBN, PALB2, RAD50, RAD51C, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Hereditary Cancer Syndromes |
CancerNext |
ATM, BARD1, BRIP1, MRE11A, NBN, RAD50, RAD51C, PALB2, CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4 |
|
Hereditary Colon Cancer |
ColoNext |
CDH1, CHEK2, MUTYH, PTEN, STK11, TP53, EPCAM, MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, SMAD4 |
|
Hereditary Diffuse Gastric Cancer |
Hereditary Diffuse Gastric Cancer |
CDH1 |
|
Hereditary Hemorrhagic Telangiectasia |
HHT Sequencing, Del/Dup & SMAD4-Related HHT |
ACVRL1, ENG, SMAD4 |
|
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) |
SLC12A6 |
|
Hereditary Thymine-Uraciluria/ Dihydropyrimidine dehydrogenase deficiency |
Hereditary Thymine-Uraciluria / Dihydropyrimidine dehydrogenase deficiency (DPYD) |
DPYD |
|
HHT, SMAD4-Related |
Juvenile Polyposis AMPLIFIED™ |
BMPR1A, SMAD4 |
|
Hirschsprung Disease, RET-Related |
RET-Related Hirschsprung Disease |
RET |
|
HNPCC (Hereditary Non-Polyposis Colon Cancer) |
HNPCC / Lynch syndrome DNA Analysis |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Hunter Syndrome |
Hunter Syndrome |
IDS |
|
Hurler Syndrome |
Hurler Syndrome |
IDUA |
|
Hurler-Scheie Syndrome |
Hurler Syndrome |
IDUA |
|
Hyperinsulinism-Hyperammonemia Syndrome |
GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism) |
GLUD1 |
|
Hyperoxaluria Type 2 |
Primary Hyperoxaluria Type 2 |
GRHPR |
|
Hyperphenylalaninemia (HPA) |
Phenylketonuria-PKU |
PAH |
|
Hypertrophic Cardiomyopathy (HCM) |
Cardiomyopathy Panels |
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GLA, ILK, JPH2, JUP, LAMP2, LDB3, 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 |
|
Immotile Cilia Syndrome (ICS) |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3 |
|
Infantile Spasms, CDKL5-Related |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
INS-Related Diabetes |
INS-Related Diabetes, Neonatal Diabetes (INS-Related) |
INS |
|
Interstitial Lung Disease, Pediatric and Familial |
Surfactant Panel (SFTPB, SFTPC, ABCA3) |
ABCA3, SFTPB, SFTPC |
|
Juvenile Polyposis (SMAD4-Related) |
HHT Sequencing, Del/Dup & SMAD4-Related HHT |
ACVRL1, ENG, SMAD4 |
|
Juvenile Polyposis Syndrome (JPS) |
Juvenile Polyposis AMPLIFIED™ |
BMPR1A, SMAD4 |
|
Kartagener's Syndrome |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3 |
|
Laminopathies |
Arrhythmia Panels |
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 |
|
Legius syndrome |
Neurofibromatosis Type 1 and Legius Syndrome |
NF1, SPRED1 |
|
LEOPARD Syndrome |
LEOPARD Syndrome |
PTPN11, RAF1 |
|
LEOPARD Syndrome |
Noonan Syndrome and Noonan/LEOPARD Syndrome |
KRAS, PTPN11, RAF1, SOS1 |
|
Li-Fraumeni Syndrome |
Li-Fraumeni Syndrome (TP53 AMPLIFIED) |
TP53 |
|
LMNA- related conduction system disease |
Arrhythmia Panels |
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 |
|
LongQT syndrome (LQTS) |
Arrhythmia Panels |
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 |
|
Louis-Barr syndrome |
ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility |
ATM |
|
Lynch Syndrome |
HNPCC / Lynch syndrome DNA Analysis |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Malignant Melanoma |
Malignant Melanoma CDKN2A(p16INK4a)/ARF(p14ARF) |
CDKN2A |
|
Marfan Syndrome |
Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel |
ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 |
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency |
ACADM |
|
MEN2A (Sipple Syndrome) |
Multiple Endocrine Neoplasia Type 2 (MEN2) |
RET |
|
MEN2B (Mucosal Neuroma Syndrome) |
Multiple Endocrine Neoplasia Type 2 (MEN2) |
RET |
|
Mental Retardation |
Microarrays: SNP+CGH Array and 180K Oligo Array |
|
|
Mucolipidosis Type IV (Mucolipidosis IV, ML4) |
Mucolipidosis Type IV |
MCOLN1 |
|
Mucopolysaccharidosis Type II (MPSII) |
Hunter Syndrome |
IDS |
|
Muir-Torre Syndrome |
HNPCC / Lynch syndrome DNA Analysis |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Multiple Congenital Anomalies |
Fragile X, 180K Oligo Array & SNP+CGH Array |
|
|
Multiple Congenital Anomalies |
Microarrays: SNP+CGH Array and 180K Oligo Array |
|
|
Multiple Endocrine Neoplasia Type 1 |
Multiple Endocrine Neoplasia Type1 (MEN1) |
MEN1 |
|
Multiple Endocrine Neoplasia Type 2 (MEN2) |
Multiple Endocrine Neoplasia Type 2 (MEN2) |
RET |
|
MUTYH-associated polyposis (MAP) |
MUTYH-associated Polypsis (MAP) |
MUTYH |
|
Neonatal Diabetes (INS-Related) |
INS-Related Diabetes, Neonatal Diabetes (INS-Related) |
INS |
|
Neonatal Diabetes, KCNJ11-Related |
Congenital Hyperinsulinism, KCNJ11-Related Diabetes |
KCNJ11 |
|
Neonatal Respiratory Failure |
Surfactant Panel (SFTPB, SFTPC, ABCA3) |
ABCA3, SFTPB, SFTPC |
|
Neurofibromatosis type 1 |
Neurofibromatosis Type 1 and Legius Syndrome |
NF1, SPRED1 |
|
Neurofibromatosis type 1-like syndrome |
Neurofibromatosis Type 1 and Legius Syndrome |
NF1, SPRED1 |
|
Nevoid basal cell-carcinoma syndrome (NBCCS) |
PTCH1/Nevoid Basal Cell-Carcinoma Syndrome |
PTCH1 |
|
Niemann-Pick Disease Type C |
Niemann-Pick Disease Type C |
NPC1, NPC2 |
|
Niemann-Pick Disease Types A & B |
Niemann-Pick Disease Types A & B |
SMPD1 |
|
Noonan Syndrome |
Noonan Syndrome and Noonan/LEOPARD Syndrome |
KRAS, PTPN11, RAF1, SOS1 |
|
Osler-Weber-Rendu |
HHT Sequencing, Del/Dup & SMAD4-Related HHT |
ACVRL1, ENG, SMAD4 |
|
PALB2-Related Cancer |
PALB2-Related Cancer |
PALB2 |
|
Pancreatitis |
Pancreatitis Amplified (CFTR, PRSS1, SPINK1 with CFTR del/dup) |
PRSS1, SPINK1, CFTR |
|
Pancreatitis |
Pancreatitis Panel (PRSS1, SPINK1, CFTR) |
PRSS1, SPINK1, CFTR |
|
Pancreatitis |
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence) |
PRSS1, SPINK1, CFTR, CTRC |
|
Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome |
Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel |
MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127 |
|
Peutz-Jeghers Syndrome |
Peutz-Jeghers AMPLIFIED™ |
STK11 |
|
Phenylketonuria (PKU) |
Phenylketonuria-PKU |
PAH |
|
Pheochromocytoma |
Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel |
MAX, SDHB, SDHC, SDHD, SDHAF2, TMEM127 |
|
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome |
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome |
DICER1 |
|
Pompe Disease |
Pompe Disease |
GAA |
|
Postnatal Respiratory Distress (chronic |
Surfactant Panel (SFTPB, SFTPC, ABCA3) |
ABCA3, SFTPB, SFTPC |
|
Prader-Willi Syndrome |
Prader-Willi Syndrome SNRPN Methylation Analysis |
SNRPN |
|
Primary Ciliary Dyskinesia (PCD) |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3 |
|
Proteus syndrome |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
PTEN Hamartoma Tumor syndrome (PHTS) |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
Pulmonary Arterial Hypertension |
PAH AMPLIFIED™ (Pulmonary Arterial Hypertension) |
BMPR2 |
|
Pulmonary Fibrosis, Idiopathic |
Idiopathic Pulmonary Fibrosis (IPF Telomerase) |
TERC, TERT |
|
RAD51D - associated cancer risk |
RAD51D |
RAD51D |
|
Retinoblastoma |
Retinoblastoma |
RB1 |
|
Rett Syndrome |
Typical and Atypical Rett Syndrome |
|
|
Rett Syndrome, MECP2-negative |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
Salla Disease and Infantile Sialic Acid Storage Disease |
Lysosomal Free Sialic Acid-Storage Diseases |
SLC17A5 |
|
Scheie Syndrome |
Hurler Syndrome |
IDUA |
|
Short QT syndrome (SQTS) |
Arrhythmia Panels |
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 |
|
Shwachman-Diamond Syndrome (SDS) |
Shwachman-Diamond Syndrome |
SBDS |
|
Sickle Cell Anemia |
Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia) |
HBB |
|
Sickle-Beta Thalassemia |
Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia) |
HBB |
|
Smith-Lemli-Opitz Syndrome, SLO |
Smith-Lemli-Opitz Syndrome (SLOS) |
DHCR7 |
|
Sudden cardiac arrest (SCA) |
Arrhythmia Panels |
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 |
|
Surfactant Dysfunction |
ABCA3-Related Surfactant Dysfunction |
ABCA3 |
|
Surfactant Dysfunction |
Surfactant Panel (SFTPB, SFTPC, ABCA3) |
ABCA3, SFTPB, SFTPC |
|
Tay-Sachs Disease |
Tay-Sachs Disease |
HEXA |
|
Tay-Sachs Disease |
Tay-Sachs Plus |
HEXA |
|
Thoracic Aortic Aneurysm and Dissection (TAAD) |
Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel |
ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2 |
|
Thrombophilia (Factor V-Leiden, Prothrombin-Factor II G20210A, MTHFR C677T, and MTHFR A1298C) |
Thrombophilia FlexPanel |
F5, F2, MTHFR |
|
Transthyretin Amyloidosis |
Transthyretin Amyloidosis |
TTR |
|
Turcot Syndrome |
APC Amplified |
APC |
|
Turcot Syndrome |
HNPCC / Lynch syndrome DNA Analysis |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Typical and Atypical Rett Syndrome |
Typical and Atypical Rett Syndrome |
|
|
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency |
very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) |
ACADVL |
|
Von Hippel-Lindau Disease |
Von Hippel-Lindau Disease |
VHL |
|
Von Recklinghausen disease |
Neurofibromatosis Type 1 and Legius Syndrome |
NF1, SPRED1 |
|
Wilson Disease |
Wilson Disease |
ATP7B |
|
X-Linked Intellectual Disabilities |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
X-Linked Intellectual Disabilities |
Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) |
FMR1 |
|
X-Linked Intellectual Disabilities |
FRAXE (FMR2) DNA Analysis |
FMR2 |
|
X-linked Intellectual Disability |
Fragile X, 180K Oligo Array & SNP+CGH Array |
|
|
X-Linked Intellectual Disability |
Targeted XLID Gene Analysis |
|
|
X-Linked Intellectual Disability |
XLID Next-Gen Panel (formally known as XLMR) |
ABCD1, ACSL4/FACL4, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX/XNP/XH2, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, FANCB, FGD1, FLNA/FLN1, FMR1, FTSJ1, GDI1, GJB1/CMTX1, GK, GPC3, GRIA3, HCCS, HPRT, HSD17B10/HADH2, HUWE1, IDS, IL1RAPL1, KDM5C/JARID1C/SMCX, KIAA2022, L1CAM, LAMP2, MAOA, MECP2, MED12/HOPA, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4/NLGN4X, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, RPL10, PRPS1, RPS6KA3/RSK2, SHROOM4/KIAA1202, SLC9A6, SLC16A2/MCT8, SMC1A/SMC1L1, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7/TM4SF2, UBE2A, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711 |
