|
ABCA3 |
ABCA3-Related Surfactant Dysfunction,
Surfactant Dysfunction |
|
ABCD1 |
ABCD1 Next-Gen |
|
ACADM |
MCAD Deficiency |
|
ACSL4/FACL4 |
ACSL4 Next-Gen |
|
ACTA2 |
ACTA2 |
|
ACVRL1 |
HHT AMPLIFIED™ & SMAD4-Related HHT |
|
AGA |
SCID (Autosomal Recessive / Adenosine Deaminase Deficiency),
Aspartylglucosaminuria |
|
AGTR2 |
AGTR2 Next-Gen |
|
AGXT |
Hyperoxaluria, Primary, Type 1 |
|
ALDOB |
Hereditary Fructose Intolerance |
|
ALPL |
Hypophosphatasia |
|
ANG |
Amyotrophic Lateral Sclerosis (ALS) |
|
AP1S2 |
AP1S2 Next-Gen |
|
APC |
APC Amplified |
|
APOB |
Familial Hypercholesterolemia AMPLIFIED |
|
ARHGEF6 |
ARHGEF6 Next-Gen |
|
ARHGEF9 |
ARHGEF9 Next-Gen |
|
ARX |
ARX-Related XLMR,
ARX Next-Gen |
|
ASL |
Argininosuccinic Aciduria |
|
ASPA |
Canavan AMPLIFIED,
Canavan Disease (part of Ashkenazi Jewish FlexPanel),
Canavan Disease (AmbrySCREEN) |
|
ASS1 |
Citrullinemia Type 1 |
|
ATM |
Ataxia-Telangiectasia |
|
ATP7A |
ATP7A Next-Gen |
|
ATP7B |
Wilson Disease |
|
ATRX/XNP/XH2 |
ATRX-Related XLMR,
ATRX Next-Gen |
|
BBS1 |
BBS1 and BBS10-Related Bardet-Biedl Syndrome |
|
BBS10 |
BBS1 and BBS10-Related Bardet-Biedl Syndrome |
|
BCKDHA |
Maple Syrup Urine Disease Types 1A & 1B (part of Ashkenazi Jewish FlexPanel),
Maple Syrup Urine Disease Type 1A and 1B |
|
BCKDHB |
Maple Syrup Urine Disease Types 1A & 1B (part of Ashkenazi Jewish FlexPanel),
Maple Syrup Urine Disease Type 1A and 1B |
|
BCOR |
BCOR Next-Gen |
|
BCS1L |
Mitochondrial Respiratory Chain Complex III Deficiency |
|
BLM |
Bloom Syndrome (part of Ashkenazi Jewish FlexPanel) |
|
BMPR1A |
Juvenile Polyposis AMPLIFIED™ |
|
BMPR2 |
PAH AMPLIFIED™ (Pulmonary Arterial Hypertension) |
|
BRAF |
HNPCC / Lynch Syndrome Tumor Testing |
|
BRWD3 |
BRWD3 Next-Gen |
|
BTD |
Biotinidase Deficiency |
|
CASK |
CASK-Related XLMR,
CASK Next-Gen,
CASK Next-Gen |
|
CBS |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ,
CBS |
|
CCM2 |
Cerebral Cavernous Malformations (CCM) |
|
CDH1 |
Hereditary Diffuse Gastric Cancer |
|
CDKL5 |
CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome),
Rett Syndrome, Typical and Atypical,
CDKL5 Next-Gen |
|
CDKN2A |
Malignant Melanoma (CDKN2A/p16) |
|
CFTR |
Cystic Fibrosis (including 508 FIRST, CF AMPLIFIED and CF 102),
Pancreatitis (PRSS1, SPINK1, CFTR sequence),
Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis, CFTR-Related (CFTR sequence),
Pancreatitis, CFTR-Related (CFTR del/dup),
Cystic Fibrosis mutation panel for AmbrySCREEN,
Cystic Fibrosis (part of Ashkenazi Jewish FlexPanel) |
|
CHD7 |
CHARGE Syndrome |
|
CHEK2 |
CHEK2-Related Cancer |
|
CLN3 |
Batten Disease (Juvenile Neuronal Ceroid-Lipofuscinosis) |
|
CLN5 |
CLN5- and CLN8-Related Neuronal Ceroid-Lipofuscinosis |
|
CLN8 |
CLN5- and CLN8-Related Neuronal Ceroid-Lipofuscinosis |
|
CLRN1 |
Usher Syndrome Type III (part of Ashkenazi Jewish FlexPanel),
Usher Syndrome Type III |
|
COL3A1 |
COL3A1 |
|
CPT2 |
Carnitine Palmitoyltransferase II Deficiency |
|
CTRC |
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis, CTRC-Related |
|
CUL4B |
CUL4B-Related XLMR,
CUL4B Next-Gen |
|
DCX |
DCX Next-Gen |
|
DHCR7 |
Smith-Lemli-Opitz Syndrome (SLOS) |
|
DICER1 |
Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome,
DICER1 Syndrome |
|
DKC1 |
Dyskeratosis Congenita,
DKC1 Next-Gen |
|
DLD |
Maple Syrup Urine Disease Type 3 (part of Ashkenazi Jewish FlexPanel),
Maple Syrup Urine Disease Type 3 |
|
DNAAF1 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
DNAAF2 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
DNAH11 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
DNAH5 |
PCD 61™ |
|
DNAI1 |
PCD 61™ |
|
DNAI2 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
DPYD |
Hereditary Thymine-Uraciluria / Dihydropyrimidine dehydrogenase deficiency (DPYD) |
|
ENG |
HHT AMPLIFIED™ & SMAD4-Related HHT |
|
EPCAM |
HNPCC / Lynch syndrome DNA Analysis |
|
ETHE1 |
Ethylmalonic Encephalopathy |
|
F2 |
Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C) |
|
F5 |
Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C) |
|
FAH |
Tyrosinemia Type I |
|
FALDH |
Sjogren-Larsson Syndrome |
|
FANCC |
Fanconi Anemia Group C (part of Ashkenazi FlexPanel) |
|
FBN1 |
FBN1 |
|
FBN2 |
FBN2 |
|
FIG4 |
Amyotrophic Lateral Sclerosis (ALS) |
|
FMR1 |
Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) |
|
FMR2 |
FRAXE (FMR2) DNA Analysis |
|
FUS |
Amyotrophic Lateral Sclerosis (ALS) |
|
G6PC |
Glycogen Storage Disease Types 1A & 1B ,
Glycogen Storage Disease Type 1A (part of Ashkenazi FlexPanel) |
|
GAA |
Pompe Disease |
|
GALC |
Krabbe Disease |
|
GALK1 |
Galactokinase Deficiency |
|
GALT |
Galactosemia |
|
GAMT |
Guanidinoacetate Methyltransferase Deficiency |
|
GBA |
Gaucher Disease ,
Gaucher Disease (part of Ashkenazi Jewish FlexPanel) |
|
GCDH |
Glutaric Acidemia Type 1 |
|
GLA |
Fabry Disease |
|
GLDC |
GLDC-Related Glycine Encephalopathy (AmbrySCREEN) |
|
GLUD1 |
GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism) |
|
GRHPR |
Hyperoxaluria, Primary, Type 2 |
|
GSS |
Glutathione synthetase deficiency (GS) |
|
HADHA |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | LCHAD Deficiency HADHA |
|
HBB |
Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia) |
|
HEXA |
Tay-Sachs Plus,
Tay-Sachs Disease (part of Ashkenazi Jewish FlexPanel) |
|
HLCS |
Holocarboxylase Synthetase Deficiency |
|
HMGCL |
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |
|
IDS |
Hunter Syndrome |
|
IDUA |
Hurler Syndrome |
|
IKBKAP |
Familial Dysautonomia (part of Ashkenazi Jewish FlexPanel) |
|
IL2RG |
X-Linked Severe Combined Immunodeficiency |
|
INS |
INS-Related Diabetes, Neonatal Diabetes (INS-Related) |
|
JAG1 |
Alagille AMPLIFIED™ |
|
KCNJ11 |
Congenital Hyperinsulinism, KCNJ11-Related Diabetes |
|
KRAS |
Noonan Syndrome and Noonan/LEOPARD Syndrome |
|
KRIT1 |
Cerebral Cavernous Malformations (CCM) |
|
L1CAM |
L1CAM-Related XLMR |
|
LDLR |
Familial Hypercholesterolemia AMPLIFIED |
|
LRPPRC |
Leigh Syndrome, French-Canadian Type |
|
MCOLN1 |
Mucolipidosis Type IV,
Mucolipidosis Type IV (part of Ashkenazi Jewish FlexPanel) |
|
MECP2 |
Rett Syndrome ,
Rett Syndrome, Typical and Atypical |
|
MEFV |
Familial Mediterranean Fever |
|
MEN1 |
Multiple Endocrine Neoplasia Type1 (MEN1) |
|
MLH1 |
HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing |
|
MMAA |
Methylmalonic Acidemia, MMAA, MMAB and MUT Related |
|
MMAB |
Methylmalonic Acidemia, MMAA, MMAB and MUT Related |
|
MMACHC |
Methylmalonic Acidemia and Homocystinuria, cblC type |
|
MSH2 |
HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing |
|
MSH6 |
HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing |
|
MT-RNR1 |
Aminoglycoside-Related Hearing Loss |
|
MTHFR |
Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C) |
|
MUT |
Methylmalonic Acidemia, MMAA, MMAB and MUT Related |
|
MUTYH |
MUTYH-associated Polypsis (MAP) |
|
MYH11 |
MYH11 |
|
NBN |
Nijmegen breakage syndrome |
|
NEB |
Nemaline Myopathy (part of Ashkenazi Jewish FlexPanel),
Nemaline Myopathy |
|
NHP2 |
Dyskeratosis Congenita |
|
NLGN3 |
NLGN3-Related XLMR |
|
NLGN4/NLGN4X |
NLGN4-Related XLMR |
|
NOP10 |
Dyskeratosis Congenita |
|
NPC1 |
Niemann-Pick Disease Type C |
|
NPC2 |
Niemann-Pick Disease Type C |
|
NPHS1 |
Congenital Finnish Nephrosis |
|
NPHS2 |
Steroid-Resistant Nephrotic Syndrome |
|
OFD1 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
PAH |
Phenylketonuria-PKU |
|
PALB2 |
PALB2-Related Cancer |
|
PCDH15 |
Usher Syndrome Type 1F (part of Ashkenazi Jewish FlexPanel),
Usher Syndrome Type 1F |
|
PCSK9 |
Familial Hypercholesterolemia AMPLIFIED |
|
PDCD10 |
Cerebral Cavernous Malformations (CCM) |
|
PEX1 |
Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease |
|
PEX7 |
Rhizomelic Chondrodysplasia Punctata |
|
PHOX2B |
Congenital Central Hypoventilation Syndrome |
|
PKHD1 |
Polycystic Kidney Disease, Autosomal Recessive |
|
PMM2 |
Congenital Disorder of Glycosylation-Ia |
|
PMS2 |
HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing |
|
POMGNT1 |
Muscle-Eye-Brain Disease |
|
PPT1 |
PPT1-Related Neuronal Ceroid-Lipofuscinosis |
|
PQBP1 |
PQBP1-Related XLMR |
|
PRSS1 |
Pancreatitis (PRSS1, SPINK1, CFTR sequence),
Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis, PRSS1-Related |
|
PTEN |
PTEN-Related Disorders (including Autism Spectrum Disorder) |
|
PTPN11 |
LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome |
|
RAF1 |
LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome |
|
RB1 |
Retinoblastoma |
|
RET |
Multiple Endocrine Neoplasia Type 2 (MEN2),
RET-Related Hirschsprung Disease |
|
RMRP |
Cartilage-Hair Hypoplasia |
|
RPGR |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
RPL11 |
Diamond-Blackfan Anemia |
|
RPL19 |
Diamond-Blackfan Anemia |
|
RPL26 |
Diamond-Blackfan Anemia |
|
RPL35A |
Diamond-Blackfan Anemia |
|
RPL5 |
Diamond-Blackfan Anemia |
|
RPS10 |
Diamond-Blackfan Anemia |
|
RPS17 |
Diamond-Blackfan Anemia |
|
RPS19 |
Diamond-Blackfan Anemia |
|
RPS24 |
Diamond-Blackfan Anemia |
|
RPS26 |
Diamond-Blackfan Anemia |
|
RPS7 |
Diamond-Blackfan Anemia |
|
RSPH4A |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
RSPH9 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
SACS |
Spastic ataxia, Charlevoix-Saguenay type |
|
SBDS |
Shwachman-Diamond Syndrome |
|
SDHAF2 |
PGL-PCC, SDHAF2-Related |
|
SDHB |
PGL-PCC, SDHB-Related |
|
SDHC |
PGL-PCC, SDHC-Related |
|
SERPINA1 |
Alpha-1-Antitrypsin Deficiency |
|
SERPING1 |
HAE AMPLIFIED (SERPING1) |
|
SFTPB |
Surfactant Dysfunction,
Surfactant Protein B |
|
SFTPC |
Surfactant Dysfunction |
|
SLC12A6 |
Andermann Syndrome |
|
SLC16A2/MCT8 |
SLC16A2-Related XLMR |
|
SLC17A5 |
Salla Disease |
|
SLC22A5 |
Carnitine Uptake Defect |
|
SLC25A15 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
SLC26A2 |
Achondrogenesis Type 1B ,
Atelosteogenesis Type II ,
Diastrophic Dysplasia ,
Multiple Epiphyseal Dysplasia, Recessive |
|
SLC2A10 |
SLC2A10 |
|
SLC37A4 |
Glycogen Storage Disease Types 1A & 1B |
|
SLC9A6 |
Angelman-like Syndrome, X-Linked |
|
SMAD3 |
SMAD3 |
|
SMAD4 |
HHT AMPLIFIED™ & SMAD4-Related HHT ,
Juvenile Polyposis AMPLIFIED™ |
|
SMPD1 |
Niemann-Pick Disease Types A & B,
Niemann-Pick Disease Type A (part of Ashkenazi Jewish Panel) |
|
SNRPN |
Angelman Syndrome,
Prader-Willi Syndrome SNRPN Methylation Analysis |
|
SOD1 |
Amyotrophic Lateral Sclerosis (ALS) |
|
SOS1 |
Noonan Syndrome and Noonan/LEOPARD Syndrome |
|
SPINK1 |
Pancreatitis (PRSS1, SPINK1, CFTR sequence),
Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence) |
|
STK11 |
Peutz-Jeghers AMPLIFIED™ |
|
SYP |
SYP-Related XLMR |
|
TARDBP |
Amyotrophic Lateral Sclerosis (ALS) |
|
TERC |
Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase) |
|
TERT |
Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase) |
|
TGFBR1 |
TGFBR1 |
|
TGFBR2 |
TGFBR2 |
|
TINF2 |
Dyskeratosis Congenita |
|
TMEM127 |
Familial Pheochromocytoma, TMEM127-Related |
|
TMEM216 |
Joubert Syndrome (part of Ashkenazi Jewish FlexPanel),
Joubert Syndrome |
|
TP53 |
Li-Fraumeni Syndrome (TP53 AMPLIFIED) |
|
TPP1 |
TPP1-Related Neuronal Ceroid-Lipofuscinosis |
|
TTR |
Transthyretin Amyloidosis |
|
TXNDC3 |
Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) |
|
UBE3A |
Angelman Syndrome |
|
UPF3B |
UPF3B-Related XLMR |
|
USH1F |
Usher Syndrome Type 1F |
|
USH3 |
Usher Syndrome Type III |
|
VHL |
Von Hippel-Lindau Disease |
|
WRAP53 |
Dyskeratosis Congenita |
|
ZNF711 |
ZNF711-Related XLMR |
|
ZNF81 |
ZNF81-Related XLMR |
