Tests by Specialty
Ambry Genetics has cataloged all of our tests and organized them below by specialty. The comprehensive listing of tests by specialty is organized in alphabetical order.
| Disease | Test | Genes |
|---|---|---|
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN HamartomaTUmor Syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN HamartomaTUmor Syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| PALB2-Related Cancer, Breast cancer, Familial, Fanconi Anemia, PALB2-Related, Pancreatic cancer, Familial | PALB2-Related Cancer | PALB2 |
| CHEK2-Related Cancer | CHEK2-Related Cancer | CHEK2 |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN HamartomaTUmor Syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| Malignant Melanoma, Cutaneous Malignant Melanoma Syndrome, Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) | Malignant Melanoma (CDKN2A/p16) | CDKN2A |
| Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome, DICER1 Syndrome | Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome | DICER1 |
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| Malignant Melanoma, Cutaneous Malignant Melanoma Syndrome, Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) | Malignant Melanoma (CDKN2A/p16) | CDKN2A |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| PALB2-Related Cancer, Breast cancer, Familial, Fanconi Anemia, PALB2-Related, Pancreatic cancer, Familial | PALB2-Related Cancer | PALB2 |
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| Hereditary Diffuse Gastric Cancer | Hereditary Diffuse Gastric Cancer | CDH1 |
| Juvenile Polyposis Syndrome (JPS), HHT, SMAD4-Related | Juvenile Polyposis AMPLIFIED™ | BMPR1A, SMAD4 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| Juvenile Polyposis Syndrome (JPS), HHT, SMAD4-Related | Juvenile Polyposis AMPLIFIED™ | BMPR1A, SMAD4 |
| Li-Fraumeni Syndrome | Li-Fraumeni Syndrome (TP53 AMPLIFIED) | TP53 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| Malignant Melanoma, Cutaneous Malignant Melanoma Syndrome, Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) | Malignant Melanoma (CDKN2A/p16) | CDKN2A |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| Multiple Endocrine Neoplasia Type 1 | Multiple Endocrine Neoplasia Type1 (MEN1) | MEN1 |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| MUTYH-associated polyposis (MAP) | MUTYH-associated Polypsis (MAP) | MUTYH |
| PALB2-Related Cancer, Breast cancer, Familial, Fanconi Anemia, PALB2-Related, Pancreatic cancer, Familial | PALB2-Related Cancer | PALB2 |
| PALB2-Related Cancer, Breast cancer, Familial, Fanconi Anemia, PALB2-Related, Pancreatic cancer, Familial | PALB2-Related Cancer | PALB2 |
| Pancreatitis, CTRC-related | Pancreatitis, CTRC-Related | CTRC |
| Pancreatitis, PRSS1-Related | Pancreatitis, PRSS1-Related | PRSS1 |
| Pancreatitis, SPINK1-related | Pancreatitis, SPINK1-Related | |
| Peutz-Jeghers Syndrome | Peutz-Jeghers AMPLIFIED™ | STK11 |
| Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome, DICER1 Syndrome | Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome | DICER1 |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN HamartomaTUmor Syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN HamartomaTUmor Syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN HamartomaTUmor Syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| Retinoblastoma | Retinoblastoma | RB1 |
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| Von Hippel-Lindau Disease | Von Hippel-Lindau Disease | VHL |
| Disease | Test | Genes |
|---|---|---|
| Cystic Fibrosis | Cystic Fibrosis (part of Ashkenazi Jewish FlexPanel) | CFTR |
| Disease | Test | Genes |
|---|---|---|
| Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism, GLUD1-Related | GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism) | GLUD1 |
| Congenital Hyperinsulinism, KCNJ11-Related, Neonatal Diabetes, KCNJ11-Related | Congenital Hyperinsulinism, KCNJ11-Related Diabetes | KCNJ11 |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism, GLUD1-Related | GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism) | GLUD1 |
| Neonatal Diabetes (INS-Related), INS-Related Diabetes | INS-Related Diabetes, Neonatal Diabetes (INS-Related) | INS |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |
| Neonatal Diabetes (INS-Related), INS-Related Diabetes | INS-Related Diabetes, Neonatal Diabetes (INS-Related) | INS |
| Congenital Hyperinsulinism, KCNJ11-Related, Neonatal Diabetes, KCNJ11-Related | Congenital Hyperinsulinism, KCNJ11-Related Diabetes | KCNJ11 |
| Disease | Test | Genes |
|---|---|---|
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| Hereditary Diffuse Gastric Cancer | Hereditary Diffuse Gastric Cancer | CDH1 |
| Hirschsprung Disease, RET-Related | RET-Related Hirschsprung Disease | RET |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| MUTYH-associated polyposis (MAP) | MUTYH-associated Polypsis (MAP) | MUTYH |
| Pancreatitis | Pancreatitis (PRSS1, SPINK1, CFTR sequence) | PRSS1, SPINK1, CFTR |
| Pancreatitis | Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup) | PRSS1, SPINK1, CFTR |
| Pancreatitis | Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence) | PRSS1, SPINK1, CFTR, CTRC |
| Pancreatitis, CTRC-related | Pancreatitis, CTRC-Related | CTRC |
| Pancreatitis, PRSS1-Related | Pancreatitis, PRSS1-Related | PRSS1 |
| Pancreatitis, SPINK1-related | Pancreatitis, SPINK1-Related | |
| Peutz-Jeghers Syndrome | Peutz-Jeghers AMPLIFIED™ | STK11 |
| Shwachman-Diamond Syndrome (SDS) | Shwachman-Diamond Syndrome | SBDS |
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch Syndrome Tumor Testing | MLH1, MSH2, MSH6, PMS2, BRAF |
| Wilson Disease | Wilson Disease | ATP7B |
| Disease | Test | Genes |
|---|---|---|
| Niemann-Pick Disease Types A & B, Acid Sphingomyelinase Deficiency | Niemann-Pick Disease Types A & B | SMPD1 |
| Fabry Disease | Fabry Disease | GLA |
| Gaucher Disease | Gaucher Disease | GBA |
| Glutaric Acidemia Type 1 | Glutaric Acidemia Type 1 | GCDH |
| Glycogen Storage Disease Type IA, Glycogen Storage Disease Type IB | Glycogen Storage Disease Types 1A & 1B | G6PC, SLC37A4 |
| Glycogen Storage Disease Type IA, Glycogen Storage Disease Type IB | Glycogen Storage Disease Types 1A & 1B | G6PC, SLC37A4 |
| Hunter Syndrome, Mucopolysaccharidosis Type II (MPSII) | Hunter Syndrome | IDS |
| Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome | Hurler Syndrome | IDUA |
| Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome | Hurler Syndrome | IDUA |
| Phenylketonuria (PKU), Hyperphenylalaninemia (HPA) | Phenylketonuria-PKU | PAH |
| Mucolipidosis Type IV (Mucolipidosis IV, ML4) | Mucolipidosis Type IV | MCOLN1 |
| Hunter Syndrome, Mucopolysaccharidosis Type II (MPSII) | Hunter Syndrome | IDS |
| Niemann-Pick Disease Type C | Niemann-Pick Disease Type C | NPC1, NPC2 |
| Niemann-Pick Disease Types A & B, Acid Sphingomyelinase Deficiency | Niemann-Pick Disease Types A & B | SMPD1 |
| Phenylketonuria (PKU), Hyperphenylalaninemia (HPA) | Phenylketonuria-PKU | PAH |
| Rett Syndrome | Rett Syndrome | MECP2 |
| Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome | Hurler Syndrome | IDUA |
| Smith-Lemli-Opitz Syndrome, SLO | Smith-Lemli-Opitz Syndrome (SLOS) | DHCR7 |
| Disease | Test | Genes |
|---|---|---|
| X-Linked Intellectual Disabilities, ZNF711-Related XLMR | ZNF711-Related XLMR | ZNF711 |
| Amyotrophic Lateral Sclerosis (ALS) | Amyotrophic Lateral Sclerosis (ALS) | ANG, FIG4, FUS, SOD1, TARDBP |
| Infantile Spasms, CDKL5-Related , Atypical Rett Syndrome, Autism/Autism Spectrum Disorder, X-Linked Intellectual Disabilities, Rett Syndrome, MECP2-negative | CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) | CDKL5 |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) | |
| Infantile Spasms, CDKL5-Related , Atypical Rett Syndrome, Autism/Autism Spectrum Disorder, X-Linked Intellectual Disabilities, Rett Syndrome, MECP2-negative | CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) | CDKL5 |
| X-Linked Intellectual Disabilities, Rett Syndrome, Rett Syndrome, Atypical, Autism/Autism Spectrum Disorder, Mental Retardation, X-linked | Rett Syndrome, Typical and Atypical | MECP2, CDKL5 |
| CASK-Related XLMR, X-Linked Intellectual Disabilities | CASK-Related XLMR | CASK |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) | |
| CUL4B-Related XLMR, X-Linked Intellectual Disabilities | CUL4B-Related XLMR | CUL4B |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) | |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) | |
| Fragile X Syndrome, X-Linked Intellectual Disabilities | Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) | FMR1 |
| FRAXE Mental Retardation, X-Linked Intellectual Disabilities | FRAXE (FMR2) DNA Analysis | FMR2 |
| Infantile Spasms, CDKL5-Related , Atypical Rett Syndrome, Autism/Autism Spectrum Disorder, X-Linked Intellectual Disabilities, Rett Syndrome, MECP2-negative | CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) | CDKL5 |
| X-Linked Intellectual Disabilities, L1CAM-Related XLMR | L1CAM-Related XLMR | L1CAM |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) | |
| X-Linked Intellectual Disabilities, Rett Syndrome, Rett Syndrome, Atypical, Autism/Autism Spectrum Disorder, Mental Retardation, X-linked | Rett Syndrome, Typical and Atypical | MECP2, CDKL5 |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) | |
| X-Linked Intellectual Disabilities, NLGN3-Related XLMR | NLGN3-Related XLMR | NLGN3 |
| X-Linked Intellectual Disabilities, NLGN4-Related XLMR | NLGN4-Related XLMR | NLGN4/NLGN4X |
| Pompe Disease | Pompe Disease | GAA |
| X-Linked Intellectual Disabilities, PQBP1-Related XLMR | PQBP1-Related XLMR | PQBP1 |
| X-Linked Intellectual Disabilities, Rett Syndrome, Rett Syndrome, Atypical, Autism/Autism Spectrum Disorder, Mental Retardation, X-linked | Rett Syndrome, Typical and Atypical | MECP2, CDKL5 |
| X-Linked Intellectual Disabilities, Rett Syndrome, Rett Syndrome, Atypical, Autism/Autism Spectrum Disorder, Mental Retardation, X-linked | Rett Syndrome, Typical and Atypical | MECP2, CDKL5 |
| Infantile Spasms, CDKL5-Related , Atypical Rett Syndrome, Autism/Autism Spectrum Disorder, X-Linked Intellectual Disabilities, Rett Syndrome, MECP2-negative | CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) | CDKL5 |
| X-Linked Intellectual Disabilities, SLC16A2-Related XLMR | SLC16A2-Related XLMR | SLC16A2/MCT8 |
| X-Linked Intellectual Disabilities, SYP-Related XLMR | SYP-Related XLMR | SYP |
| X-Linked Intellectual Disabilities, UPF3B-Related XLMR | UPF3B-Related XLMR | UPF3B |
| X-Linked Intellectual Disabilities | ARX-Related XLMR | ARX |
| CASK-Related XLMR, X-Linked Intellectual Disabilities | CASK-Related XLMR | CASK |
| Infantile Spasms, CDKL5-Related , Atypical Rett Syndrome, Autism/Autism Spectrum Disorder, X-Linked Intellectual Disabilities, Rett Syndrome, MECP2-negative | CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) | CDKL5 |
| CUL4B-Related XLMR, X-Linked Intellectual Disabilities | CUL4B-Related XLMR | CUL4B |
| Fragile X Syndrome, X-Linked Intellectual Disabilities | Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) | FMR1 |
| FRAXE Mental Retardation, X-Linked Intellectual Disabilities | FRAXE (FMR2) DNA Analysis | FMR2 |
| X-Linked Intellectual Disabilities, L1CAM-Related XLMR | L1CAM-Related XLMR | L1CAM |
| X-Linked Intellectual Disabilities, NLGN3-Related XLMR | NLGN3-Related XLMR | NLGN3 |
| X-Linked Intellectual Disabilities, NLGN4-Related XLMR | NLGN4-Related XLMR | NLGN4/NLGN4X |
| X-Linked Intellectual Disabilities, PQBP1-Related XLMR | PQBP1-Related XLMR | PQBP1 |
| X-Linked Intellectual Disabilities, Rett Syndrome, Rett Syndrome, Atypical, Autism/Autism Spectrum Disorder, Mental Retardation, X-linked | Rett Syndrome, Typical and Atypical | MECP2, CDKL5 |
| X-Linked Intellectual Disabilities, SLC16A2-Related XLMR | SLC16A2-Related XLMR | SLC16A2/MCT8 |
| X-Linked Intellectual Disabilities, SYP-Related XLMR | SYP-Related XLMR | SYP |
| X-Linked Intellectual Disabilities, UPF3B-Related XLMR | UPF3B-Related XLMR | UPF3B |
| X-Linked Intellectual Disabilities | XLMR 180K Oligo ArrayPlus | |
| X-Linked Intellectual Disabilities, ZNF711-Related XLMR | ZNF711-Related XLMR | ZNF711 |
| X-Linked Intellectual Disabilities, ZNF81-Related XLMR | ZNF81-Related XLMR | ZNF81 |
| X-Linked Intellectual Disabilities, ZNF81-Related XLMR | ZNF81-Related XLMR | ZNF81 |
| Disease | Test | Genes |
|---|---|---|
| Alpha-1-Antitrypsin Deficiency | Alpha-1-Antitrypsin Deficiency | SERPINA1 |
| Congenital Central Hypoventilation Syndrome | Congenital Central Hypoventilation Syndrome | PHOX2B |
| Cystic Fibrosis (CF) | Cystic Fibrosis (including 508 FIRST, CF AMPLIFIED and CF 102) | CFTR |
| Primary Ciliary Dyskinesia (PCD), Immotile Cilia Syndrome (ICS) | PCD 61™ | DNAH5, DNAI1 |
| Primary Ciliary Dyskinesia (PCD), Immotile Cilia Syndrome (ICS), Kartagener's Syndrome | Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) | DNAAF1, DNAAF2, DNAH11, DNAI2, RSPH4A, RSPH9, TXNDC3, OFD1, RPGR |
| Interstitial Lung Disease, Pediatric and Familial, Surfactant Dysfunction, Neonatal Respiratory Failure, Postnatal Respiratory Distress (chronic) | ABCA3-Related Surfactant Dysfunction | ABCA3 |
| Primary Ciliary Dyskinesia (PCD), Immotile Cilia Syndrome (ICS), Kartagener's Syndrome | Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) | DNAAF1, DNAAF2, DNAH11, DNAI2, RSPH4A, RSPH9, TXNDC3, OFD1, RPGR |
| Interstitial Lung Disease, Pediatric and Familial, Surfactant Dysfunction, Neonatal Respiratory Failure, Postnatal Respiratory Distress (chronic) | ABCA3-Related Surfactant Dysfunction | ABCA3 |
| Surfactant Protein B Deficiency, Postnatal Respiratory Distress (chronic), Neonatal Respiratory Failure | Surfactant Protein B | SFTPB |
| Interstitial Lung Disease, Pediatric and Familial, Surfactant Dysfunction, Neonatal Respiratory Failure, Postnatal Respiratory Distress (chronic) | ABCA3-Related Surfactant Dysfunction | ABCA3 |
| Surfactant Protein B Deficiency, Postnatal Respiratory Distress (chronic), Neonatal Respiratory Failure | Surfactant Protein B | SFTPB |
| Primary Ciliary Dyskinesia (PCD), Immotile Cilia Syndrome (ICS) | PCD 61™ | DNAH5, DNAI1 |
| Primary Ciliary Dyskinesia (PCD), Immotile Cilia Syndrome (ICS), Kartagener's Syndrome | Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) | DNAAF1, DNAAF2, DNAH11, DNAI2, RSPH4A, RSPH9, TXNDC3, OFD1, RPGR |
| Pulmonary Arterial Hypertension | PAH AMPLIFIED™ (Pulmonary Arterial Hypertension) | BMPR2 |
| Pulmonary Fibrosis, Idiopathic | Idiopathic Pulmonary Fibrosis (IPF Telomerase) | TERC, TERT |
| Surfactant Deficiency or Dysfunction | Surfactant Dysfunction | SFTPB, SFTPC, ABCA3 |
| Interstitial Lung Disease, Pediatric and Familial, Surfactant Dysfunction, Neonatal Respiratory Failure, Postnatal Respiratory Distress (chronic) | ABCA3-Related Surfactant Dysfunction | ABCA3 |
| Surfactant Protein B Deficiency, Postnatal Respiratory Distress (chronic), Neonatal Respiratory Failure | Surfactant Protein B | SFTPB |