|
ZNF711-Related XLMR |
ZNF711-Related XLMR |
ZNF711 |
|
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |
HMGCL |
|
Achondrogenesis Type 1B |
Achondrogenesis Type 1B |
SLC26A2 |
|
Acid Sphingomyelinase Deficiency |
Niemann-Pick Disease Types A & B |
SMPD1 |
|
Adenosine deaminase deficiency |
SCID (Autosomal Recessive / Adenosine Deaminase Deficiency) |
AGA |
|
Alagille Syndrome |
Alagille AMPLIFIED™ |
JAG1 |
|
Alpha-1-Antitrypsin Deficiency |
Alpha-1-Antitrypsin Deficiency |
SERPINA1 |
|
Aminoglycoside-Related Hearing Loss |
Aminoglycoside-Related Hearing Loss |
MT-RNR1 |
|
Amyotrophic Lateral Sclerosis (ALS) |
Amyotrophic Lateral Sclerosis (ALS) |
ANG, FIG4, FUS, SOD1, TARDBP |
|
Andermann Syndrome |
Andermann Syndrome |
SLC12A6 |
|
Angelman Syndrome |
Angelman Syndrome |
SNRPN, UBE3A |
|
Angelman-like Syndrome, X-Linked |
Angelman-like Syndrome, X-Linked |
SLC9A6 |
|
Aortic aneurysm, familial thoracic type 6 |
ACTA2 |
ACTA2 |
|
Argininosuccinic Aciduria |
Argininosuccinic Aciduria |
ASL |
|
Arterial Tortuosity Syndrome |
SLC2A10 |
SLC2A10 |
|
Aspartylglucosaminuria |
Aspartylglucosaminuria |
AGA |
|
Ataxia-Telangiectasia |
Ataxia-Telangiectasia |
ATM |
|
Atelosteogenesis Type II |
Atelosteogenesis Type II |
SLC26A2 |
|
ATRX-Related XLMR |
ATRX-Related XLMR |
ATRX/XNP/XH2 |
|
Attenuated FAP (AFAP) |
APC Amplified |
APC |
|
Atypical Rett Syndrome |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
Autism / Autism spectrum disorder |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
Autism/Autism Spectrum Disorder |
Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) |
|
|
Autism/Autism Spectrum Disorder |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
Autism/Autism Spectrum Disorder |
Rett Syndrome, Typical and Atypical |
MECP2, CDKL5 |
|
Bannayan-Riley-Ruvalcaba syndrome |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
Batten Disease |
Batten Disease (Juvenile Neuronal Ceroid-Lipofuscinosis) |
CLN3 |
|
BBS1 and BBS10-Related Bardet-Biedl Syndrome |
BBS1 and BBS10-Related Bardet-Biedl Syndrome |
BBS1, BBS10 |
|
Beta Thalassemia |
Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia) |
HBB |
|
Biotinidase Deficiency |
Biotinidase Deficiency |
BTD |
|
Bloom Syndrome |
Bloom Syndrome (AmbrySCREEN) |
|
|
Bloom Syndrome |
Bloom Syndrome (part of Ashkenazi Jewish FlexPanel) |
BLM |
|
Breast cancer, Familial |
PALB2-Related Cancer |
PALB2 |
|
Canavan Disease |
Canavan AMPLIFIED |
ASPA |
|
Canavan Disease |
Canavan Disease (AmbrySCREEN) |
ASPA |
|
Canavan Disease |
Canavan Disease (part of Ashkenazi Jewish FlexPanel) |
ASPA |
|
Carnitine Deficiency, Systemic |
Carnitine Uptake Defect |
SLC22A5 |
|
Carnitine Palmitoyltransferase II Deficiency |
Carnitine Palmitoyltransferase II Deficiency |
CPT2 |
|
Carnitine Uptake Defect |
Carnitine Uptake Defect |
SLC22A5 |
|
Cartilage-Hair Hypoplasia |
Cartilage-Hair Hypoplasia |
RMRP |
|
CASK-Related XLMR |
CASK-Related XLMR |
CASK |
|
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 |
Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) |
|
|
Citrullinemia Type 1 |
Citrullinemia Type 1 |
ASS1 |
|
CLN5- and CLN8-Related Neuronal Ceroid-Lipofuscinosis |
CLN5- and CLN8-Related Neuronal Ceroid-Lipofuscinosis |
CLN5, CLN8 |
|
Congenital Central Hypoventilation Syndrome |
Congenital Central Hypoventilation Syndrome |
PHOX2B |
|
Congenital Contractural Arachnodactyly |
FBN2 |
FBN2 |
|
Congenital Disorder of Glycosylation-Ia |
Congenital Disorder of Glycosylation-Ia |
PMM2 |
|
Congenital Finnish Nephrosis |
Congenital Finnish Nephrosis |
NPHS1 |
|
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 |
|
CUL4B-Related XLMR |
CUL4B-Related XLMR |
CUL4B |
|
Cutaneous Malignant Melanoma Syndrome |
Malignant Melanoma (CDKN2A/p16) |
CDKN2A |
|
Cystic Fibrosis |
Cystic Fibrosis (part of Ashkenazi Jewish FlexPanel) |
CFTR |
|
Cystic Fibrosis |
Cystic Fibrosis mutation panel for AmbrySCREEN |
CFTR |
|
Cystic Fibrosis (CF) |
Cystic Fibrosis (including 508 FIRST, CF AMPLIFIED and CF 102) |
CFTR |
|
Developmental Delay |
Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) |
|
|
Diamond-Blackfan Anemia |
Diamond-Blackfan Anemia |
RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RPL19, RPL26 |
|
Diastrophic Dysplasia |
Diastrophic Dysplasia |
SLC26A2 |
|
DICER1 Syndrome |
DICER1 Syndrome |
DICER1 |
|
DICER1 Syndrome |
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome |
DICER1 |
|
Dyskeratosis Congenita |
Dyskeratosis Congenita |
DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53 |
|
Dysmorphism |
Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) |
|
|
Ehlers-Danlos Type IV |
COL3A1 |
COL3A1 |
|
Ethylmalonic Encephalopathy |
Ethylmalonic Encephalopathy |
ETHE1 |
|
Fabry Disease |
Fabry Disease |
GLA |
|
Factor V-Leiden |
Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C) |
F5, F2, MTHFR |
|
Familial Adenomatous Polyposis (FAP) |
APC Amplified |
APC |
|
Familial Atypical Mole-Malignant Melanoma Syndrome (FAMMM) |
Malignant Melanoma (CDKN2A/p16) |
CDKN2A |
|
Familial Dysautonomia |
Familial Dysautonomia (part of Ashkenazi Jewish FlexPanel) |
IKBKAP |
|
Familial Hypercholesterolemia |
Familial Hypercholesterolemia AMPLIFIED |
APOB, LDLR, PCSK9 |
|
Familial Mediterranean Fever |
Familial Mediterranean Fever |
MEFV |
|
Familial Medullary Thyroid Carcinoma (FMTC) |
Multiple Endocrine Neoplasia Type 2 (MEN2) |
RET |
|
Fanconi Anemia Group C |
Fanconi Anemia Group C (part of Ashkenazi FlexPanel) |
FANCC |
|
Fanconi Anemia, PALB2-Related |
PALB2-Related Cancer |
PALB2 |
|
Fragile X Syndrome |
Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) |
FMR1 |
|
FRAXE Mental Retardation |
FRAXE (FMR2) DNA Analysis |
FMR2 |
|
Galactokinase Deficiency |
Galactokinase Deficiency |
GALK1 |
|
Galactosemia |
Galactosemia |
GALT |
|
Gardner Syndrome |
APC Amplified |
APC |
|
Gaucher Disease |
Gaucher Disease |
GBA |
|
Gaucher Disease |
Gaucher Disease (part of Ashkenazi Jewish FlexPanel) |
GBA |
|
GLDC-Related Glycine Encephalopathy |
GLDC-Related Glycine Encephalopathy (AmbrySCREEN) |
GLDC |
|
Glutaric Acidemia Type 1 |
Glutaric Acidemia Type 1 |
GCDH |
|
Glutathione synthetase deficiency (GS) |
Glutathione synthetase deficiency (GS) |
GSS |
|
Glycogen Storage Disease Type 1A |
Glycogen Storage Disease Type 1A (part of Ashkenazi FlexPanel) |
G6PC |
|
Glycogen Storage Disease Type IA |
Glycogen Storage Disease Types 1A & 1B |
G6PC, SLC37A4 |
|
Glycogen Storage Disease Type IB |
Glycogen Storage Disease Types 1A & 1B |
G6PC, SLC37A4 |
|
Guanidinoacetate Methyltransferase Deficiency |
Guanidinoacetate Methyltransferase Deficiency |
GAMT |
|
Hereditary Angioedema |
HAE AMPLIFIED (SERPING1) |
SERPING1 |
|
Hereditary Diffuse Gastric Cancer |
Hereditary Diffuse Gastric Cancer |
CDH1 |
|
Hereditary Fructose Intolerance |
Hereditary Fructose Intolerance |
ALDOB |
|
Hereditary Hemorrhagic Telangiectasia |
HHT AMPLIFIED™ & SMAD4-Related HHT |
ACVRL1, ENG, SMAD4 |
|
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
Andermann Syndrome |
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 |
|
HNPCC (Hereditary Non-Polyposis Colon Cancer) |
HNPCC / Lynch Syndrome Tumor Testing |
MLH1, MSH2, MSH6, PMS2, BRAF |
|
Holocarboxylase Synthetase Deficiency |
Holocarboxylase Synthetase Deficiency |
HLCS |
|
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
CBS |
CBS |
|
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
CBS |
|
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 |
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
SLC25A15 |
|
Hyperoxaluria, Primary, Type 1 |
Hyperoxaluria, Primary, Type 1 |
AGXT |
|
Hyperoxaluria, Primary, Type 2 |
Hyperoxaluria, Primary, Type 2 |
GRHPR |
|
Hyperphenylalaninemia (HPA) |
Phenylketonuria-PKU |
PAH |
|
Hypophosphatasia |
Hypophosphatasia |
ALPL |
|
Immotile Cilia Syndrome (ICS) |
PCD 61™ |
DNAH5, DNAI1 |
|
Immotile Cilia Syndrome (ICS) |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
DNAAF1, DNAAF2, DNAH11, DNAI2, RSPH4A, RSPH9, TXNDC3, OFD1, RPGR |
|
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 |
ABCA3-Related Surfactant Dysfunction |
ABCA3 |
|
Joubert Syndrome |
Joubert Syndrome |
TMEM216 |
|
Joubert Syndrome |
Joubert Syndrome (part of Ashkenazi Jewish FlexPanel) |
TMEM216 |
|
Juvenile Neuronal Ceroid-Lipofuscinosis |
Batten Disease (Juvenile Neuronal Ceroid-Lipofuscinosis) |
CLN3 |
|
Juvenile Polyposis (SMAD4-Related) |
HHT AMPLIFIED™ & 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) |
DNAAF1, DNAAF2, DNAH11, DNAI2, RSPH4A, RSPH9, TXNDC3, OFD1, RPGR |
|
Krabbe Disease |
Krabbe Disease |
GALC |
|
L1CAM-Related XLMR |
L1CAM-Related XLMR |
L1CAM |
|
Leigh Syndrome, French-Canadian Type |
Leigh Syndrome, French-Canadian Type |
LRPPRC |
|
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 |
|
Loeys-Dietz Syndrome |
TGFBR1 |
TGFBR1 |
|
Loeys-Dietz Syndrome |
TGFBR2 |
TGFBR2 |
|
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | LCHAD Deficiency HADHA |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | LCHAD Deficiency HADHA |
HADHA |
|
Lynch Syndrome |
HNPCC / Lynch syndrome DNA Analysis |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Lynch Syndrome |
HNPCC / Lynch Syndrome Tumor Testing |
MLH1, MSH2, MSH6, PMS2, BRAF |
|
Malignant Melanoma |
Malignant Melanoma (CDKN2A/p16) |
CDKN2A |
|
Maple Syrup Urine Disease Type 1A and 1B |
Maple Syrup Urine Disease Type 1A and 1B |
BCKDHA, BCKDHB |
|
Maple Syrup Urine Disease Type 3 |
Maple Syrup Urine Disease Type 3 |
DLD |
|
Maple Syrup Urine Disease Type 3 |
Maple Syrup Urine Disease Type 3 (part of Ashkenazi Jewish FlexPanel) |
DLD |
|
Maple Syrup Urine Disease Types 1A and 1B |
Maple Syrup Urine Disease Types 1A & 1B (part of Ashkenazi Jewish FlexPanel) |
BCKDHA, BCKDHB |
|
Marfan Syndrome |
FBN1 |
FBN1 |
|
MCAD Deficiency |
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 |
Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) |
|
|
Mental Retardation, X-linked |
Rett Syndrome, Typical and Atypical |
MECP2, CDKL5 |
|
Methylmalonic Acidemia and Homocystinuria, cblC type |
Methylmalonic Acidemia and Homocystinuria, cblC type |
MMACHC |
|
Methylmalonic Acidemia, MMAA, MMAB and MUT Related |
Methylmalonic Acidemia, MMAA, MMAB and MUT Related |
MMAA, MMAB, MUT |
|
Mitochondrial Respiratory Chain Complex III Deficiency |
Mitochondrial Respiratory Chain Complex III Deficiency |
BCS1L |
|
Mucolipidosis Type IV |
Mucolipidosis Type IV (part of Ashkenazi Jewish FlexPanel) |
MCOLN1 |
|
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 |
|
Muir-Torre Syndrome |
HNPCC / Lynch Syndrome Tumor Testing |
MLH1, MSH2, MSH6, PMS2, BRAF |
|
Multiple Congenital Anomalies |
Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray) |
|
|
Multiple Endocrine Neoplasia Type 1 |
Multiple Endocrine Neoplasia Type1 (MEN1) |
MEN1 |
|
Multiple Endocrine Neoplasia Type 2 (MEN2) |
Multiple Endocrine Neoplasia Type 2 (MEN2) |
RET |
|
Multiple Epiphyseal Dysplasia, Recessive |
Multiple Epiphyseal Dysplasia, Recessive |
SLC26A2 |
|
Muscle-Eye-Brain Disease |
Muscle-Eye-Brain Disease |
POMGNT1 |
|
MUTYH-associated polyposis (MAP) |
MUTYH-associated Polypsis (MAP) |
MUTYH |
|
Nemaline Myopathy |
Nemaline Myopathy |
NEB |
|
Nemaline Myopathy |
Nemaline Myopathy (part of Ashkenazi Jewish FlexPanel) |
NEB |
|
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 |
ABCA3-Related Surfactant Dysfunction |
ABCA3 |
|
Neonatal Respiratory Failure |
Surfactant Protein B |
SFTPB |
|
Niemann-Pick Disease Type A |
Niemann-Pick Disease Type A (part of Ashkenazi Jewish Panel) |
SMPD1 |
|
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 |
|
Nijmegen breakage syndrome |
Nijmegen breakage syndrome |
NBN |
|
NLGN3-Related XLMR |
NLGN3-Related XLMR |
NLGN3 |
|
NLGN4-Related XLMR |
NLGN4-Related XLMR |
NLGN4/NLGN4X |
|
Noonan Syndrome |
Noonan Syndrome and Noonan/LEOPARD Syndrome |
KRAS, PTPN11, RAF1, SOS1 |
|
Osler-Weber-Rendu |
HHT AMPLIFIED™ & SMAD4-Related HHT |
ACVRL1, ENG, SMAD4 |
|
PALB2-Related Cancer |
PALB2-Related Cancer |
PALB2 |
|
Pancreatic cancer, Familial |
PALB2-Related Cancer |
PALB2 |
|
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, CFTR-Related |
Pancreatitis, CFTR-Related (CFTR del/dup) |
CFTR |
|
Pancreatitis, CFTR-Related |
Pancreatitis, CFTR-Related (CFTR sequence) |
CFTR |
|
Pancreatitis, CTRC-related |
Pancreatitis, CTRC-Related |
CTRC |
|
Pancreatitis, PRSS1-Related |
Pancreatitis, PRSS1-Related |
PRSS1 |
|
Pancreatitis, SPINK1-related |
Pancreatitis, SPINK1-Related |
|
|
Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome |
Familial Pheochromocytoma, TMEM127-Related |
TMEM127 |
|
Paraganglioma-Pheochromocytoma Syndrome (PGL-PCC) |
PGL-PCC, SDHAF2-Related |
SDHAF2 |
|
Paraganglioma-Pheochromocytoma Syndrome (PGL-PCC) |
PGL-PCC, SDHB-Related |
SDHB |
|
Paraganglioma-Pheochromocytoma Syndrome (PGL-PCC) |
PGL-PCC, SDHC-Related |
SDHC |
|
Paraganglioma-Pheochromocytoma Syndrome (PGL-PCC) |
PGL-PCC, SDHD-Related |
|
|
Peutz-Jeghers Syndrome |
Peutz-Jeghers AMPLIFIED™ |
STK11 |
|
Phenylketonuria (PKU) |
Phenylketonuria-PKU |
PAH |
|
Pheochromocytoma, Familial |
Familial Pheochromocytoma, TMEM127-Related |
TMEM127 |
|
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia syndrome |
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome |
DICER1 |
|
Polycystic Kidney Disease, Autosomal Recessive |
Polycystic Kidney Disease, Autosomal Recessive |
PKHD1 |
|
Pompe Disease |
Pompe Disease |
GAA |
|
Postnatal Respiratory Distress (chronic) |
ABCA3-Related Surfactant Dysfunction |
ABCA3 |
|
Postnatal Respiratory Distress (chronic) |
Surfactant Protein B |
SFTPB |
|
PPT1-Related Neuronal Ceroid-Lipofuscinosis |
PPT1-Related Neuronal Ceroid-Lipofuscinosis |
PPT1 |
|
PQBP1-Related XLMR |
PQBP1-Related XLMR |
PQBP1 |
|
Prader-Willi Syndrome |
Prader-Willi Syndrome SNRPN Methylation Analysis |
SNRPN |
|
Primary Ciliary Dyskinesia (PCD) |
PCD 61™ |
DNAH5, DNAI1 |
|
Primary Ciliary Dyskinesia (PCD) |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
DNAAF1, DNAAF2, DNAH11, DNAI2, RSPH4A, RSPH9, TXNDC3, OFD1, RPGR |
|
Proteus syndrome |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
PTEN |
|
PTEN HamartomaTUmor 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 |
|
Retinoblastoma |
Retinoblastoma |
RB1 |
|
Rett Syndrome |
Rett Syndrome |
MECP2 |
|
Rett Syndrome |
Rett Syndrome, Typical and Atypical |
MECP2, CDKL5 |
|
Rett Syndrome, Atypical |
Rett Syndrome, Typical and Atypical |
MECP2, CDKL5 |
|
Rett Syndrome, MECP2-negative |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
Rhizomelic chondrodysplasia punctata |
Rhizomelic Chondrodysplasia Punctata |
PEX7 |
|
Salla Disease |
Salla Disease |
SLC17A5 |
|
Scheie Syndrome |
Hurler Syndrome |
IDUA |
|
Severe Combined Immunodeficiency (SCID), Autosomal Recessive |
SCID (Autosomal Recessive / Adenosine Deaminase Deficiency) |
AGA |
|
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 |
|
Sjogren-Larsson Syndrome |
Sjogren-Larsson Syndrome |
FALDH |
|
SLC16A2-Related XLMR |
SLC16A2-Related XLMR |
SLC16A2/MCT8 |
|
Smith-Lemli-Opitz Syndrome, SLO |
Smith-Lemli-Opitz Syndrome (SLOS) |
DHCR7 |
|
Spastic ataxia, Charlevoix-Saguenay type |
Spastic ataxia, Charlevoix-Saguenay type |
SACS |
|
Steroid-Resistant Nephrotic Syndrome |
Steroid-Resistant Nephrotic Syndrome |
NPHS2 |
|
Surfactant Deficiency or Dysfunction |
Surfactant Dysfunction |
SFTPB, SFTPC, ABCA3 |
|
Surfactant Dysfunction |
ABCA3-Related Surfactant Dysfunction |
ABCA3 |
|
Surfactant Protein B Deficiency |
Surfactant Protein B |
SFTPB |
|
SYP-Related XLMR |
SYP-Related XLMR |
SYP |
|
Tay-Sachs Disease |
Tay-Sachs Disease (part of Ashkenazi Jewish FlexPanel) |
HEXA |
|
Tay-Sachs Disease |
Tay-Sachs Plus |
HEXA |
|
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) |
COL3A1 |
COL3A1 |
|
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) |
MYH11 |
MYH11 |
|
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) |
SMAD3 |
SMAD3 |
|
Thrombophilia (Factor V-Leiden, Prothrombin-Factor II G20210A, MTHFR C677T, and MTHFR A1298C) |
Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C) |
F5, F2, MTHFR |
|
TPP1-Related Neuronal Ceroid-Lipofuscinosis |
TPP1-Related Neuronal Ceroid-Lipofuscinosis |
TPP1 |
|
Transthyretin Amyloidosis |
Transthyretin Amyloidosis |
TTR |
|
Turcot Syndrome |
APC Amplified |
APC |
|
Turcot Syndrome |
HNPCC / Lynch syndrome DNA Analysis |
EPCAM, MLH1, MSH2, MSH6, PMS2 |
|
Turcot Syndrome |
HNPCC / Lynch Syndrome Tumor Testing |
MLH1, MSH2, MSH6, PMS2, BRAF |
|
Tyrosinemia Type I |
Tyrosinemia Type I |
FAH |
|
UPF3B-Related XLMR |
UPF3B-Related XLMR |
UPF3B |
|
Usher Syndrome Type 1F |
Usher Syndrome Type 1F |
PCDH15 , USH1F |
|
Usher Syndrome Type 1F |
Usher Syndrome Type 1F (part of Ashkenazi Jewish FlexPanel) |
PCDH15 |
|
Usher Syndrome Type III |
Usher Syndrome Type III |
CLRN1, USH3 |
|
Usher Syndrome Type III |
Usher Syndrome Type III (part of Ashkenazi Jewish FlexPanel) |
CLRN1 |
|
Von Hippel-Lindau Disease |
Von Hippel-Lindau Disease |
VHL |
|
Wilson Disease |
Wilson Disease |
ATP7B |
|
X-Linked Intellectual Disabilities |
ABCD1 Next-Gen |
ABCD1 |
|
X-Linked Intellectual Disabilities |
ACSL4 Next-Gen |
ACSL4/FACL4 |
|
X-Linked Intellectual Disabilities |
AGTR2 Next-Gen |
AGTR2 |
|
X-Linked Intellectual Disabilities |
AP1S2 Next-Gen |
AP1S2 |
|
X-Linked Intellectual Disabilities |
ARHGEF6 Next-Gen |
ARHGEF6 |
|
X-Linked Intellectual Disabilities |
ARHGEF9 Next-Gen |
ARHGEF9 |
|
X-Linked Intellectual Disabilities |
ARX Next-Gen |
ARX |
|
X-Linked Intellectual Disabilities |
ARX-Related XLMR |
ARX |
|
X-Linked Intellectual Disabilities |
ATP6AP2 Next-Gen |
|
|
X-Linked Intellectual Disabilities |
ATP7A Next-Gen |
ATP7A |
|
X-Linked Intellectual Disabilities |
ATRX Next-Gen |
ATRX/XNP/XH2 |
|
X-Linked Intellectual Disabilities |
ATRX-Related XLMR |
ATRX/XNP/XH2 |
|
X-Linked Intellectual Disabilities |
BCOR Next-Gen |
BCOR |
|
X-Linked Intellectual Disabilities |
BRWD3 Next-Gen |
BRWD3 |
|
X-Linked Intellectual Disabilities |
CASK Next-Gen |
CASK |
|
X-Linked Intellectual Disabilities |
CASK Next-Gen |
CASK |
|
X-Linked Intellectual Disabilities |
CASK-Related XLMR |
CASK |
|
X-Linked Intellectual Disabilities |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) |
CDKL5 |
|
X-Linked Intellectual Disabilities |
CDKL5 Next-Gen |
CDKL5 |
|
X-Linked Intellectual Disabilities |
CUL4B Next-Gen |
CUL4B |
|
X-Linked Intellectual Disabilities |
CUL4B-Related XLMR |
CUL4B |
|
X-Linked Intellectual Disabilities |
DCX Next-Gen |
DCX |
|
X-Linked Intellectual Disabilities |
DKC1 Next-Gen |
DKC1 |
|
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 Disabilities |
L1CAM-Related XLMR |
L1CAM |
|
X-Linked Intellectual Disabilities |
NLGN3-Related XLMR |
NLGN3 |
|
X-Linked Intellectual Disabilities |
NLGN4-Related XLMR |
NLGN4/NLGN4X |
|
X-Linked Intellectual Disabilities |
PQBP1-Related XLMR |
PQBP1 |
|
X-Linked Intellectual Disabilities |
Rett Syndrome, Typical and Atypical |
MECP2, CDKL5 |
|
X-Linked Intellectual Disabilities |
SLC16A2-Related XLMR |
SLC16A2/MCT8 |
|
X-Linked Intellectual Disabilities |
SYP-Related XLMR |
SYP |
|
X-Linked Intellectual Disabilities |
UPF3B-Related XLMR |
UPF3B |
|
X-Linked Intellectual Disabilities |
XLMR 180K Oligo ArrayPlus |
|
|
X-Linked Intellectual Disabilities |
XLMR Next-Gen SuperPanel |
|
|
X-Linked Intellectual Disabilities |
ZNF711-Related XLMR |
ZNF711 |
|
X-Linked Intellectual Disabilities |
ZNF81-Related XLMR |
ZNF81 |
|
X-Linked Severe Combined Immunodeficiency |
X-Linked Severe Combined Immunodeficiency |
IL2RG |
|
XLMR |
XLMR Comprehensive (Chromosomes, Fragile X, XLMR 180K Array, XLMR SuperPanel) |
|
|
XLMR |
XLMR Next-Gen SuperPanel |
|
|
Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease |
Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease |
PEX1 |
|
ZNF81-Related XLMR |
ZNF81-Related XLMR |
ZNF81 |
