Invitae Expanded Renal Disease Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency;
11p partial monosomy syndrome;
2-aminoadipic 2-oxoadipic aciduria
more...
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Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
11p partial monosomy syndrome
2-aminoadipic 2-oxoadipic aciduria
46,XY sex reversal 2
5-Oxoprolinase deficiency
ACTH-independent macronodular adrenal hyperplasia 1
ADULT syndrome
ALG1-congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Acrocallosal syndrome
Acrocephalosyndactyly type I
Action myoclonus-renal failure syndrome
Acute febrile neutrophilic dermatosis
Acute myeloid leukemia
Adenine phosphoribosyltransferase deficiency
Adult hypophosphatasia
Age related macular degeneration 13
Age related macular degeneration 4
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Aldosterone-producing adenoma with seizures and neurological abnormalities
Alkaptonuria
Alstrom syndrome
Amelogenesis imperfecta type 1G
Amyloidosis, hereditary systemic 1
Angioedema, hereditary, 4
Aniridia 1
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anterior segment dysgenesis 3
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Apparent mineralocorticoid excess
Arginine:glycine amidinotransferase deficiency
Arterial calcification, generalized, of infancy, 1
Arterial calcification, generalized, of infancy, 2
Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 2
Arts syndrome
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Ataxia-telangiectasia-like disorder 1
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Autoimmune lymphoproliferative syndrome type 4
Autosomal dominant Alport syndrome
Autosomal dominant Robinow syndrome 1
Autosomal dominant distal renal tubular acidosis
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 2
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic hearing loss 17
Autosomal dominant nonsyndromic hearing loss 23
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant osteopetrosis 1
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal recessive Alport syndrome
Autosomal recessive hypophosphatemic bone disease
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 66
Autosomal recessive proximal renal tubular acidosis
Autosomal systemic lupus erythematosus type 16
Axenfeld-Rieger syndrome type 3
BLOOD GROUP--DIEGO SYSTEM
BLOOD GROUP--FROESE
BLOOD GROUP--SWANN SYSTEM
BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WRIGHT ANTIGEN
BNAR syndrome
Baraitser-Winter syndrome 1
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 20
Bardet-Biedl syndrome 22
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bartter disease type 1
Bartter disease type 2
Bartter disease type 3
Bartter disease type 4A
Bartter disease type 4B
Bartter disease type 5
Basal laminar drusen
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Benign familial hematuria
Bent bone dysplasia syndrome 1
Bent bone dysplasia syndrome 2
Blepharophimosis - intellectual disability syndrome, SBBYS type
Bone mineral density quantitative trait locus 1
Brain small vessel disease 1 with or without ocular anomalies
Branchiooculofacial syndrome
Branchiootic syndrome 1
Branchiootic syndrome 3
Branchiootorenal syndrome 1
Branchiootorenal syndrome 2
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 3
CBL-related disorder
CFHR5 deficiency
CHARGE syndrome
CK syndrome
COACH syndrome 1
COACH syndrome 2
COACH syndrome 3
Café-au-lait macules with pulmonary stenosis
Carcinoma of pancreas
Cardiofaciocutaneous syndrome 1
Cardiofaciocutaneous syndrome 2
Cardiofaciocutaneous syndrome 3
Cardiofaciocutaneous syndrome 4
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carpal tunnel syndrome 1
Cataract 41
Cenani-Lenz syndactyly syndrome
Cerebral arteriovenous malformation
Cerebral palsy, spastic quadriplegic, 2
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease, axonal, Type 2HH
Child syndrome
Childhood hypophosphatasia
Cholestasis, progressive familial intrahepatic, 12
Chondrodysplasia punctata 2 X-linked dominant
Chronic infantile neurological, cutaneous and articular syndrome
Chuvash polycythemia
Cobalamin C disease
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Colorectal cancer
Combined oxidative phosphorylation defect type 11
Congenital absence of salivary gland
Congenital adrenal hypoplasia, X-linked
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital anomalies of kidney and urinary tract 3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital disorder of glycosylation, type IIw
Congenital generalized lipodystrophy type 1
Congenital glucose-galactose malabsorption
Congenital muscular hypertrophy-cerebral syndrome
Congenital myasthenic syndrome 16
Congenital myasthenic syndrome 17
Corticosterone 18-monooxygenase deficiency
Corticosterone methyloxidase type 2 deficiency
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
Crouzon syndrome
Cryohydrocytosis
Currarino triad
Cystinuria
Dalmatian hypouricemia
Deafness, congenital heart defects, and posterior embryotoxon
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Dent disease type 1
Dent disease type 2
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Developmental malformations-deafness-dystonia syndrome
Diabetes insipidus, nephrogenic, X-linked
Diabetes insipidus, nephrogenic, autosomal
Diabetes mellitus type 1
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1NN
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Distichiasis-lymphedema syndrome
Donnai-Barrow syndrome
Drash syndrome
Duane retraction syndrome 3 with or without deafness
Duane-radial ray syndrome
EAST syndrome
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Encephalocraniocutaneous lipomatosis
Encephalopathy, acute, infection-induced, susceptibility to, 4
Epidermal nevus
Epidermolysis bullosa simplex 7, with nephropathy and deafness
Epidermolysis bullosa, junctional 5A, intermediate
Epidermolysis bullosa, junctional 6, with pyloric atresia
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Epilepsy, childhood absence, susceptibility to, 6
Epilepsy, idiopathic generalized, susceptibility to, 11
Epilepsy, idiopathic generalized, susceptibility to, 8
Episodic ataxia type 1
Essential hypertension, genetic
Euthyroid goiter
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
Fabry disease
Factor H deficiency
Factor I deficiency
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial X-linked hypophosphatemic vitamin D refractory rickets
Familial amyloid nephropathy with urticaria AND deafness
Familial apolipoprotein C-II deficiency
Familial cancer of breast
Familial cold autoinflammatory syndrome 1
Familial dysautonomia
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia 2
Familial hypocalciuric hypercalcemia 3
Familial hypokalemia-hypomagnesemia
Familial idiopathic hypercalciuria
Familial juvenile hyperuricemic nephropathy type 1
Familial juvenile hyperuricemic nephropathy type 2
Familial medullary thyroid carcinoma
Familial partial lipodystrophy, Dunnigan type
Familial scaphocephaly syndrome, McGillivray type
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial visceral amyloidosis, Ostertag type
Fanconi anemia complementation group A
Fanconi anemia complementation group P
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi-Bickel syndrome
Feingold syndrome type 1
Fibromatosis, gingival, 1
Finnish congenital nephrotic syndrome
Finnish type amyloidosis
Fish-eye disease
Floating-Harbor syndrome
Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 2
Focal segmental glomerulosclerosis 3, susceptibility to
Focal segmental glomerulosclerosis 4, susceptibility to
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 6
Focal segmental glomerulosclerosis 7
Focal segmental glomerulosclerosis 8
Focal segmental glomerulosclerosis 9
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome 3
Frasier syndrome
GRACILE syndrome
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 10
Galloway-Mowat syndrome 2, X-linked
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
Galloway-Mowat syndrome 5
Galloway-Mowat syndrome 7
Galloway-Mowat syndrome 8
Gastric cancer
Genitopatellar syndrome
Gillessen-Kaesbach-Nishimura syndrome
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Glomerulopathy with fibronectin deposits 2
Glucocorticoid-remediable aldosteronism
Glucose-6-phosphate transport defect
Greig cephalopolysyndactyly syndrome
Guttmacher syndrome
Hajdu-Cheney syndrome
Hand-foot-genital syndrome
Hartsfield-Bixler-Demyer syndrome
Hearing loss, X-linked 1
Hearing loss, X-linked 6
Hearing loss, autosomal dominant 34, with or without inflammation
Hearing loss, autosomal dominant 80
Heart defect - tongue hamartoma - polysyndactyly syndrome
Heart-hand syndrome, Slovenian type
Heimler syndrome 2
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemorrhage, intracerebral, susceptibility to
Hennekam lymphangiectasia-lymphedema syndrome 2
Hepatic adenomas, familial
Hereditary spastic paraplegia 23
Hereditary spherocytosis type 4
Hereditary xanthinuria type 1
Hermansky-Pudlak syndrome 1
Hirschsprung disease, susceptibility to, 1
Hutchinson-Gilford syndrome
Hydrolethalus syndrome 2
Hyperaldosteronism, familial, type IV
Hypercalcemia, infantile, 1
Hypercalcemia, infantile, 2
Hyperekplexia 1
Hyperglycinuria
Hyperimmunoglobulin D with periodic fever
Hyperkalemic periodic paralysis
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 4
Hyperthyroxinemia, dystransthyretinemic
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hyperuricemic nephropathy, familial juvenile type 4
Hypoalphalipoproteinemia, primary, 2
Hypoalphalipoproteinemia, primary, 2, intermediate
Hypogonadotropic hypogonadism 1 with or without anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 3 with or without anosmia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2
Hypomagnesemia, seizures, and intellectual disability 1
Hypoparathyroidism, deafness, renal disease syndrome
Hypoparathyroidism, familial isolated, 2
Hypophosphatemic nephrolithiasis/osteoporosis 1
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoproteinemia, hypercatabolic
Hypotrichosis-lymphedema-telangiectasia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypouricemia, renal, 2
IMAGe syndrome
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 2
Iminoglycinuria
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Infantile hypophosphatasia
Infantile nephronophthisis
Inherited obesity
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Intellectual developmental disorder, autosomal recessive 77
Intestinal hypomagnesemia 1
Isolated cryptophthalmia
Isolated focal cortical dysplasia type II
Isolated neonatal sclerosing cholangitis
Jackson-Weiss syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 2
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 31
Joubert syndrome 40
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with renal defect
Junctional epidermolysis bullosa with pyloric atresia
Juvenile myelomonocytic leukemia
Juvenile nephropathic cystinosis
Karyomegalic interstitial nephritis
Keratitis fugax hereditaria
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Koolen-de Vries syndrome
LADD syndrome 1
LAMB2-related infantile-onset nephrotic syndrome
LEOPARD syndrome 1
LEOPARD syndrome 2
LEOPARD syndrome 3
LZTR1-related schwannomatosis
Large congenital melanocytic nevus
Leber congenital amaurosis 10
Lesch-Nyhan syndrome
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Liddle syndrome 1
Liddle syndrome 2
Liddle syndrome 3
Limb-mammary syndrome
Linear nevus sebaceous syndrome
Long QT syndrome 13
Lowe syndrome
Lower urinary tract obstruction, congenital
Lung cancer
Lymphangiomyomatosis
Lysinuric protein intolerance
MEND syndrome
MORM syndrome
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Malaria, susceptibility to
Malignant tumor of urinary bladder
Mandibuloacral dysplasia with type A lipodystrophy
Maturity-onset diabetes of the young type 3
McCune-Albright syndrome
McKusick-Kaufman syndrome
Meacham syndrome
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 11
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel syndrome, type 8
Meckel syndrome, type 9
Medulloblastoma
Melanoma, cutaneous malignant, susceptibility to, 1
Melorheostosis
Menke-Hennekam syndrome 1
Mesothelioma, malignant
Metachondromatosis
Mevalonic aciduria
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Microphthalmia with brain and digit anomalies
Microvascular complications of diabetes, susceptibility to, 3
Mitochondrial DNA depletion syndrome 8a
Mitochondrial complex 4 deficiency, nuclear type 10
Mitochondrial complex 4 deficiency, nuclear type 3
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 7
Mitral valve prolapse, myxomatous 2
Mullerian aplasia and hyperandrogenism
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple system atrophy 1, susceptibility to
Myasthenic syndrome, congenital, 22
Myoglobinuria, acute recurrent, autosomal recessive
NPHP3-related Meckel-like syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Neonatal diabetes mellitus with congenital hypothyroidism
Neonatal severe primary hyperparathyroidism
Nephrogenic syndrome of inappropriate antidiuresis
Nephrolithiasis, calcium oxalate
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis 7
Nephronophthisis 9
Nephronophthisis-like nephropathy 1
Nephronophthisis-like nephropathy 2
Nephropathic cystinosis
Nephrotic syndrome 14
Nephrotic syndrome 15
Nephrotic syndrome 16
Nephrotic syndrome, IIa 26
Nephrotic syndrome, type 10
Nephrotic syndrome, type 11
Nephrotic syndrome, type 12
Nephrotic syndrome, type 13
Nephrotic syndrome, type 17
Nephrotic syndrome, type 18
Nephrotic syndrome, type 19
Nephrotic syndrome, type 2
Nephrotic syndrome, type 20
Nephrotic syndrome, type 3
Nephrotic syndrome, type 4
Nephrotic syndrome, type 6
Nephrotic syndrome, type 8
Nephrotic syndrome, type 9
Neurocutaneous melanocytosis
Neurodevelopmental disorder with or without autism or seizures
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurohypophyseal diabetes insipidus
Neuropathy, hereditary sensory and autonomic, type 2A
Neutral 1 amino acid transport defect
Nonpapillary renal cell carcinoma
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Noonan syndrome-like disorder with loose anagen hair 1
Norum disease
Obesity due to CEP19 deficiency
Ocular cystinosis
Oculootoradial syndrome
Oculotrichoanal syndrome
Orofacial cleft 11
Orofacial cleft 8
Orofacial-digital syndrome IV
Orofaciodigital syndrome I
Orofaciodigital syndrome type 6
Osteoglophonic dysplasia
Osteopetrosis with renal tubular acidosis
Osteoporosis
Osteoporosis with pseudoglioma
Otofaciocervical syndrome 1
Ovarian dysgenesis 6
PMM2-congenital disorder of glycosylation
Pallister-Hall syndrome
Paramyotonia congenita of Von Eulenburg
Parathyroid carcinoma
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Pendred syndrome
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Pfeiffer syndrome
Pheochromocytoma
Phosphate transport defect
Phosphoribosylpyrophosphate synthetase superactivity
Pierson syndrome
Pili torti-deafness syndrome
Pituitary adenoma 3, multiple types
Plasminogen deficiency, type I
Pleuropulmonary blastoma
Polycystic kidney disease 2
Polycystic kidney disease 3 with or without polycystic liver disease
Polycystic kidney disease 4
Polycystic kidney disease 5
Polycystic kidney disease 6 with or without polycystic liver disease
Polycystic liver disease 1
Polycystic liver disease 2
Polycystic liver disease 3 with or without kidney cysts
Polycystic liver disease 4 with or without kidney cysts
Polydactyly, postaxial, type A1
Polysyndactyly 4
Porokeratosis 3, disseminated superficial actinic type
Potassium-aggravated myotonia
Primary hyperoxaluria type 3
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary hypomagnesemia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive osseous heteroplasia
Proline dehydrogenase deficiency
Proteinuria, chronic benign
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Prune belly syndrome
Pseudohyperaldosteronism type 2
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism, type IB1, autosomal recessive
Pseudohypoaldosteronism, type IB2, autosomal recessive
Pseudohypoaldosteronism, type IB3, autosomal recessive
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type I A
Pseudopseudohypoparathyroidism
Pseudoxanthoma elasticum, forme fruste
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RAPH BLOOD GROUP SYSTEM
RHYNS syndrome
Rapp-Hodgkin syndrome
Renal coloboma syndrome
Renal cysts and diabetes syndrome
Renal dysplasia, cystic, susceptibility to
Renal hypodysplasia/aplasia 1
Renal hypodysplasia/aplasia 2
Renal hypodysplasia/aplasia 3
Renal hypomagnesemia 2
Renal hypomagnesemia 4
Renal hypomagnesemia 5 with ocular involvement
Renal hypomagnesemia 6
Renal tubular acidosis with progressive nerve deafness
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
Renal tubular acidosis, distal, 4, with hemolytic anemia
Renal tubular dysgenesis of genetic origin
Renal-hepatic-pancreatic dysplasia 1
Renal-hepatic-pancreatic dysplasia 2
Retinal arterial tortuosity
Retinitis pigmentosa
Retinitis pigmentosa 23
Retinitis pigmentosa 51
Retinitis pigmentosa 55
Retinitis pigmentosa 71
Retinitis pigmentosa 74
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Retinitis pigmentosa 93
Rhabdomyosarcoma, embryonal, 2
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Rubinstein-Taybi syndrome due to CREBBP mutations
SERKAL syndrome
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Sarcotubular myopathy
Scalp-ear-nipple syndrome
Schimke immuno-osseous dysplasia
Schizophrenia 4
Sclerosteosis 2
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 8
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 14 with polydactyly
Short-rib thoracic dysplasia 18 with polydactyly
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sinoatrial node dysfunction and deafness
Smith-Lemli-Opitz syndrome
Sneddon syndrome
Sotos syndrome
Southeast Asian ovalocytosis
Spermatogenic failure 58
Spermatogenic failure 72
Split hand-foot malformation 4
Spondylometaphyseal dysplasia - Sutcliffe type
Sucrase-isomaltase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Tetralogy of Fallot
Thrombocytopenia 1
Thrombomodulin-related bleeding disorder
Thyroid cancer, nonmedullary, 2
Toriello-Lacassie-Droste syndrome
Townes-Brocks syndrome 1
Trigonocephaly 1
Trigonocephaly 2
Tuberous sclerosis 1
Tuberous sclerosis 2
Tumoral calcinosis, hyperphosphatemic, familial, 1
Tumoral calcinosis, hyperphosphatemic, familial, 2
Type 1 diabetes mellitus 20
Type 2 diabetes mellitus
Upshaw-Schulman syndrome
Urinary bladder, atony of
Urofacial syndrome type 1
Van Maldergem syndrome 1
Van Maldergem syndrome 2
Vasculitis due to ADA2 deficiency
Ventriculomegaly-cystic kidney disease
Vesicoureteral reflux 2
Vesicoureteral reflux 3
Vitamin D hydroxylation-deficient rickets, type 1B
Vitamin D-dependent rickets type II with alopecia
Vitamin D-dependent rickets, type 1A
Von Hippel-Lindau syndrome
Wilms tumor 1
Wilson disease
Wiskott-Aldrich syndrome
Wolcott-Rallison dysplasia
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome
Wooly hair-palmoplantar keratoderma syndrome
Worth disease
X-linked Alport syndrome
X-linked recessive nephrolithiasis with renal failure
X-linked severe congenital neutropenia
Xanthinuria type II
ABCC6 (16p13.11);
ACE (17q23.3);
ACTB (7p22.1);
ACTN4 (19q13.2);
ADA2 (22q11.1)
more...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
The Invitae Expanded Renal Disease Panel analyzes genes that are …
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633100
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Tests can be ordered online or by submitting a paper requisition form.
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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Post-test genetic counseling required:
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Conditions
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Total conditions: 693
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 388
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
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Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
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The Invitae Expanded Renal Disease Panel analyzes genes that are associated with renal disorders including but not limited to Alport syndrome, focal segmental glomerulosclerosis (FSGS), nephrotic syndrome, renal tubular disorders, as well as syndromic conditions which include renal disease or renal anomalies as a clinical feature. Renal disorders are genetically …
The Invitae Expanded Renal Disease Panel analyzes genes that are associated with renal disorders including but not limited to Alport syndrome, focal segmental glomerulosclerosis (FSGS), nephrotic syndrome, renal tubular disorders, as well as syndromic conditions which include renal disease or renal anomalies as a clinical feature. Renal disorders are genetically heterogeneous disorders representing a wide spectrum of hereditary renal conditions. The genetic heterogeneity associated with these renal conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. Some genes in this test may be associated with additional disorders unrelated to this panel; such additional conditions are not included in the list of disorders tested.
This assay does not currently include the PKD1 gene. Pathogenic variants in the PKD1 gene account for the majority (~78%) of autosomal dominant polycystic kidney disease, type 1 (PKD1). Additional testing for PKD1 should be considered, if not yet performed and clinically appropriate.
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Technical Information
Test Procedure:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic …
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
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