PRKAR1A gene related symptoms and diseases
All the information presented here about the PRKAR1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PRKAR1A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Increased circulating cortisol level | Uncommon - Between 30% and 50% cases |
| Hypertension | Uncommon - Between 30% and 50% cases |
| Hypogonadism | Uncommon - Between 30% and 50% cases |
| Cone-shaped epiphysis | Uncommon - Between 30% and 50% cases |
| Blue irides | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PRKAR1A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Short metatarsal
- Cardiac myxoma
- Growth hormone excess
- Accelerated skeletal maturation
- Neoplasm
- Striae distensae
- Intellectual disability
- Obesity
And 238 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRKAR1A gene
Here you will find a list of rare diseases related to the PRKAR1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACUTE PROMYELOCYTIC LEUKEMIA
Alternate names
ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic
Description
Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA
- Leukemia
- Acute promyelocytic leukemia
- Abnormal granulocytopoietic cell morphology
More info about ACUTE PROMYELOCYTIC LEUKEMIA
FAMILIAL ATRIAL MYXOMA
Alternate names
FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial
Description
Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.
Most common symptoms of FAMILIAL ATRIAL MYXOMA
- Seizures
- Cognitive impairment
- Fever
- Atrial septal defect
- Congestive heart failure
More info about FAMILIAL ATRIAL MYXOMA
CARNEY COMPLEX
Alternate names
CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome, carney syndrome, carney myxoma-endocrine complex, type 2
Description
Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.
Most common symptoms of CARNEY COMPLEX
- Neoplasm
- Congestive heart failure
- Stroke
- Hirsutism
- Sudden cardiac death
More info about CARNEY COMPLEX
CARNEY COMPLEX, TYPE 1; CNC1
Alternate names
CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome, myxoma, spotty pigmentation, and endocrine overactivity, carney myxoma-endocrine complex, car, carney syndrome, name syndrome
Description
Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).
Most common symptoms of CARNEY COMPLEX, TYPE 1; CNC1
- Neoplasm
- Muscle weakness
- Pain
- Hypertension
- Fever
More info about CARNEY COMPLEX, TYPE 1; CNC1
SOURCES: OMIM
ACRODYSOSTOSIS
Alternate names
ACRODYSOSTOSIS Is also known as acrodysplasia, arkless-graham syndrome, maroteaux-malamut syndrome
Description
Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Most common symptoms of ACRODYSOSTOSIS
- Intellectual disability
- Short stature
- Hearing impairment
- Hypertelorism
- Cryptorchidism
More info about ACRODYSOSTOSIS
SOURCES: ORPHANET
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
Alternate names
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr
Description
Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012).
Most common symptoms of ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
SOURCES: OMIM
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
Alternate names
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad, primary pigmented nodular adrenal dysplasia, cushing syndrome, adrenal, due to ppnad3
Description
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).
Most common symptoms of PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
- Short stature
- Muscle weakness
- Hypertension
- Skeletal muscle atrophy
- Fatigue
More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
Alternate names
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1, cushing syndrome, adrenal, due to ppnad1, adrenocortical nodular dysplasia, primary
Description
Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002).
Most common symptoms of PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
- Neoplasm
- Hypertension
- Kyphosis
- Obesity
- Depressivity
More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
SOURCES: OMIM
ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE
Most common symptoms of ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE
- Intellectual disability
- Global developmental delay
- Scoliosis
- Cryptorchidism
- Delayed speech and language development
More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE
SOURCES: ORPHANET
Search interest in PRKAR1A
Potential gene panels for PRKAR1A gene
Hereditary Endocrine Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panel United States.
Inherited Cancer Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2
More info about this panel United States.
VistaSeq Hereditary Cancer Panel Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta VistaSeq Hereditary Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1
More info about this panel Canada.
Vistaseq Hereditary Cancer Panel Without BRCA Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Vistaseq Hereditary Cancer Panel Without BRCA that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1 ABRAXAS1 PALB2
More info about this panel Canada.
VistaSeq Endrocrine Cancer Panel Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta VistaSeq Endrocrine Cancer Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 TMEM127 MAX MEN1 NF1
More info about this panel Canada.
Hypoparathyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hypoparathyroidism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hereditary Thyroid Cancer Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Thyroid Cancer Panel that also includes the following genes: SDHB SDHD TP53 WRN DICER1 SRGAP1 AKT1 APC PIK3CA PRKAR1A
More info about this panel United States.
Facial Dysostosis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2
More info about this panel United States.
PRKAR1A Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the PRKAR1A gene.
More info about this panel United States.
Acrodysostosis 1 with or without hormone resistance Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the PRKAR1A gene.
More info about this panel United States.
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 that also includes the following genes: SDHA SDHB SDHC SDHD TP53 TSC1 TSC2 VHL CDC73 SDHAF2
More info about this panel United States.
Hereditary Cancer Panel- Comprehensive63 Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11
More info about this panel United States.
BrainTumorNext Panel
United States.
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
More info about this panel United States.
CancerNext-Expanded Panel
United States.
By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
CustomNext: Cancer Panel
United States.
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
PRKAR1A mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the PRKAR1A gene.
More info about this panel Netherlands.
PRKAR1A. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
Hereditary Endocrine Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127
More info about this panel United States.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Craniofacial Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Carney complex type 1 (sequence analysis of PRKAR1A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PRKAR1A gene.
More info about this panel Portugal.
OncoRisk (NGS panel for 48 genes) Panel
Portugal.
By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL
More info about this panel Portugal.
OncoRisk Plus (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Portugal.
Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panel Portugal.
Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH
More info about this panel Portugal.
Acrodysostosis with Hormone Resistance Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the PRKAR1A gene.
More info about this panel United Kingdom.
Carney Complex Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the PRKAR1A gene.
More info about this panel United Kingdom.
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Carney Complex (CNC) via PRKAR1A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PRKAR1A gene.
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCO2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Gastrointestinal Stromal Tumor – Basic Diagnostics Panel
Germany.
By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor – Basic Diagnostics that also includes the following genes: SDHB SDHC SDHD KIT NF1 PRKAR1A
More info about this panel Germany.
Carney Complex Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PRKAR1A gene.
More info about this panel Germany.
Hereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Germany.
Pheochromozytoma-Paraganglioma syndrome Panel
Germany.
By MGZ Medical Genetics Center Pheochromozytoma-Paraganglioma syndrome that also includes the following genes: SDHB SDHC SDHD VHL SDHAF2 TMEM127 MAX MEN1 NF1 PRKAR1A
More info about this panel Germany.
Gastrointestinal Stromal Tumor Panel
Germany.
By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor that also includes the following genes: SDHB SDHC SDHD SMARCB1 SDHAF2 TMEM127 KIT MAX MEN1 NF1
More info about this panel Germany.
Pheochromocytoma type 7 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRKAR1A gene.
More info about this panel Germany.
Disorders associated with malignancy Panel Panel
Germany.
By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA
More info about this panel Germany.
Pheochromocytoma and Paraganglioma Panel Panel
Germany.
By CeGaT GmbH Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL CDKN1B SDHAF2 TMEM127 MAX MEN1
More info about this panel Germany.
Single gene testing PRKAR1A Panel
Germany.
By CeGaT GmbH
This panel specifically test the PRKAR1A gene.
More info about this panel Germany.
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
Germany.
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panel Germany.
Carney Complex, PRKAR1A Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the PRKAR1A gene.
More info about this panel Israel.
Cancer Predisposition Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel Estonia.
Thyroid Cancer Panel
Estonia.
By Asper Biogene Asper Biogene LLC Thyroid Cancer that also includes the following genes: SDHB SDHD TP53 CDC73 DICER1 APC MEN1 PRKAR1A PTEN RET
More info about this panel Estonia.
Invitae Sarcoma Panel Panel
United States.
By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panel United States.
Invitae Multi-Cancer Panel Panel
United States.
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Invitae Thyroid Cancer Panel Panel
United States.
By Invitae Invitae Thyroid Cancer Panel that also includes the following genes: TP53 DICER1 APC PRKAR1A PTEN RET
More info about this panel United States.
Invitae Nervous System/Brain Cancer Panel Panel
United States.
By Invitae Invitae Nervous System/Brain Cancer Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
More info about this panel United States.
Invitae Carney Complex Test Panel
United States.
By Invitae
This panel specifically test the PRKAR1A gene.
More info about this panel United States.
Invitae Pediatric Nervous System/Brain Tumors Panel Panel
United States.
By Invitae Invitae Pediatric Nervous System/Brain Tumors Panel that also includes the following genes: SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1 ALK
More info about this panel United States.
Invitae Pediatric Solid Tumors Panel Panel
United States.
By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11
More info about this panel United States.
Carney complex type 1: PRKAR1A gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
ONCOLOGY, PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panel Spain.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Hereditary Cancer Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panel United States.
Endocrine Cancer: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Cancer: Sequencing Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127 AIP
More info about this panel United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Endocrine Cancer: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Cancer: Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX MEN1
More info about this panel United States.
Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panel United States.
Hereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
PRKAR1A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRKAR1A gene.
More info about this panel United States.
Thyroid Cancer Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Thyroid Cancer Comprehensive Panel that also includes the following genes: TP53 DICER1 APC PRKAR1A PTEN RET
More info about this panel United States.
Nervous System / Brain Cancer Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nervous System / Brain Cancer Comprehensive Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
More info about this panel United States.
Comprehensive Cancer Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel United States.
Sarcoma Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panel United States.
Congenital Adrenal Hyperplasia Panel Panel
Finland.
By Blueprint Genetics Congenital Adrenal Hyperplasia Panel that also includes the following genes: STAR ARMC5 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B2 POR PRKAR1A
More info about this panel Finland.
Hereditary Pediatric Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Hereditary Endocrine Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL WRN CDC73 DICER1 CDKN1B
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Carney complex, type 1 Panel
Spain.
By Bioarray
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
CARDIAC MYXOMA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
CARNEY SYNDROME TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEUROFIBROMATOSIS/SCHWANNOMATOSIS NGS PANEL that also includes the following genes: SMARCB1 COQ6 SPRED1 CABIN1 LZTR1 NF1 NF2 PRKAR1A
More info about this panel Spain.
Carney Syndrome Type 1, Sequencing PRKAR1A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
Acrodysostosis Type 1 , Sequencing PRKAR1A Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PRKAR1A gene.
More info about this panel Spain.
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Spain.
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes that also includes the following genes: BLM SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1 CDKN1C
More info about this panel Spain.
Hereditary Thyroid Cancer , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Thyroid Cancer , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TP53 DICER1 APC PRKAR1A PTEN RET
More info about this panel Spain.
Phosphorus Brain and Nervous System Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1
More info about this panel United States.
Phosphorus Thyroid Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Thyroid Cancer Panel that also includes the following genes: TP53 DICER1 APC PRKAR1A PTEN RET
More info about this panel United States.
Phosphorus Pan-Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Phosphorus Pediatric Cancers Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
Endocrine Cancer: gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Endocrine Cancer: gene sequencing Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127 AIP
More info about this panel Canada.
Endocrine Cancer: gene deletion/duplication Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Endocrine Cancer: gene deletion/duplication Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX MEN1
More info about this panel Canada.
Hereditary Cancer Syndrome: Gene Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panel Canada.
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panel Canada.
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