Endocrinology

Timely detection and diagnosis of hormone-related diseases can significantly improve prognosis. Through our extensive rare disease-centric Bio/Databank, we can provide you with a comprehensive and accurate analysis of genetic variants associated with hormone-related diseases. Our medical reports include treatment recommendations and a differential diagnosis, if applicable – allowing for genetic counseling and informed treatment decisions.

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Diabetes and obesity panel

Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia, as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy, such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome, are not detected with this panel.

No. of genes:	265
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis

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Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCA1	600046	HDL deficiency, familial, 1	AD
ABCA1	600046	Tangier disease	AR
ABCC8	600509	Diabetes mellitus, transient neonatal 2	-
		Diabetes mellitus, noninsulin-dependent	AD
		Hyperinsulinemic hypoglycemia, familial, 1	AD, AR
		Hypoglycemia of infancy, leucine-sensitive	AD
		Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AR
ABCG5	605459	Sitosterolemia 2	AR
ABCG8	605460	Gallbladder disease 4	-
ABCG8	605460	Sitosterolemia 1	AR
ACAT1	607809	Alpha-methylacetoacetic aciduria	AR
ACSF3	614245	Combined malonic and methylmalonic aciduria	-
ADCY3	600291	Obesity, susceptibility to, BMIQ19	AR
AFF4	604417	CHOPS syndrome	AD
AGL	610860	Glycogen storage disease IIIb	AR
AGL	610860	Glycogen storage disease IIIa	AR
AGRP	602311	Obesity, late-onset	AD, AR, MF
AGRP	602311	Leanness, inherited	AD, AR, MF
AIP	605555	Pituitary adenoma 1, multiple types	AD, SM
AIP	605555	Pituitary adenoma predisposition	AD, SM
AIRE	607358	Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia	AD, AR
AKT2	164731	Diabetes mellitus, type II	AD
AKT2	164731	Hypoinsulinemic hypoglycemia with hemihypertrophy	AD
ALDOA	103850	Glycogen storage disease XII	AR
ALDOB	612724	Fructose intolerance, hereditary	AR
ALG1	605907	Congenital disorder of glycosylation, type Ik	AR
ALG11	613666	Congenital disorder of glycosylation, type Ip	AR
ALG12	607144	Congenital disorder of glycosylation, type Ig	AR
ALG3	608750	Congenital disorder of glycosylation, type Id	AR
ALG6	604566	Congenital disorder of glycosylation, type Ic	AR
ALG8	-	Polycystic liver disease 3 with or without kidney cysts	AD
ALG8	-	Congenital disorder of glycosylation, type Ih	AR
ALG9	606941	Congenital disorder of glycosylation, type Il	AR
ALG9	606941	Gillessen-Kaesbach-Nishimura syndrome	AR
ANGPTL3	604774	Hypobetalipoproteinemia, familial, 2	AR
APOA1	107680	ApoA-I and apoC-III deficiency, combined	AR
		Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding	AR
		Hypoalphalipoproteinemia, primary, 2, intermediate	AD
		Amyloidosis, 3 or more types	AD
APOA5	606368	Hyperchylomicronemia, late-onset	AD
APOA5	606368	Hypertriglyceridemia, susceptibility to	AD
APOB	107730	Hypobetalipoproteinemia	AR
APOB	107730	Hypercholesterolemia, familial, 2	AD
APOC2	-	Hyperlipoproteinemia, type Ib	AR
APOC3	107720	Apolipoprotein C-III deficiency	-
APOE	107741	Sea-blue histiocyte disease	AR
		Lipoprotein glomerulopathy	-
		?Alzheimer disease, protection against, due to APOE3-Christchurch	AD
		Hyperlipoproteinemia, type III	-
		Coronary artery disease, severe, susceptibility to	-
		?Macular degeneration, age-related	AD
		Alzheimer disease 2	AD
APPL1	604299	Maturity-onset diabetes of the young, type 14	AD
AQP2	107777	Diabetes insipidus, nephrogenic	AD, AR
ARL13B	608922	Joubert syndrome 8	AR
ARL6	608845	Retinitis pigmentosa 55	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARMC5	615549	ACTH-independent macronodular adrenal hyperplasia 2	AD, SM
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA	AR
ATP6V0A2	611716	Wrinkly skin syndrome	AR
AVP	192340	Diabetes insipidus, neurohypophyseal	AD
AVPR2	-	Nephrogenic syndrome of inappropriate antidiuresis	XLR
AVPR2	-	Diabetes insipidus, nephrogenic	XLR
B4GALT1	137060	Congenital disorder of glycosylation, type IId	AR
BBS1	209901	Bardet-Biedl syndrome 1	AR, DR
BBS10	610148	Bardet-Biedl syndrome 10	AR
BBS12	610683	Bardet-Biedl syndrome 12	AR
BBS2	606151	Bardet-Biedl syndrome 2	AR
BBS2	606151	Retinitis pigmentosa 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome 7	AR
BBS9	607968	Bardet-Biedl syndrome 9	AR
BLK	191305	Maturity-onset diabetes of the young, type 11	AD
CANT1	613165	Desbuquois dysplasia 1	AR
CANT1	613165	Epiphyseal dysplasia, multiple, 7	AR
CC2D2A	612013	Meckel syndrome 6	AR
		Retinitis pigmentosa 93	AR
		Joubert syndrome 9	AR
		COACH syndrome 2	AR
CCDC28B	610162	Bardet-Biedl syndrome 1, modifier of	AR, DR
CEL	114840	Maturity-onset diabetes of the young, type VIII	AD
CEP164	614848	Nephronophthisis 15	AR
CEP19	615586	Morbid obesity and spermatogenic failure	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		Joubert syndrome 5	AR
CETP	118470	Hyperalphalipoproteinemia	AD
CETP	118470	[High density lipoprotein cholesterol level QTL 10]	AD
CFAP418	614477	Retinitis pigmentosa 64	AR
		Cone-rod dystrophy 16	AR
		Bardet-Biedl syndrome 21	AR
CHD2	602119	Epileptic encephalopathy, childhood-onset	AD
CISD2	611507	Wolfram syndrome 2	AR
CNOT1	604917	Holoprosencephaly 12, with or without pancreatic agenesis	AD
CNOT1	604917	Vissers-Bodmer syndrome	AD
COG1	606973	Congenital disorder of glycosylation, type IIg	AR
COG4	606976	Congenital disorder of glycosylation, type IIj	AR
COG4	606976	Saul-Wilson syndrome	AD
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COG6	606977	Shaheen syndrome	AR
COG6	606977	Congenital disorder of glycosylation, type IIl	AR
COG7	606978	Congenital disorder of glycosylation, type IIe	AR
COG8	606979	Congenital disorder of glycosylation, type IIh	-
CP	117700	Cerebellar ataxia	AR
		Hemosiderosis, systemic, due to aceruloplasminemia	AR
		[Hypoceruloplasminemia, hereditary]	AR
CPE	114855	Intellectual developmental disorder and hypogonadotropic hypogonadism	AR
CREBBP	600140	Menke-Hennekam syndrome 1	AD
CREBBP	600140	Rubinstein-Taybi syndrome 1	AD
CUL4B	300304	Mental retardation, X-linked, syndromic 15 (Cabezas type)	XLR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
DCAF17	612515	Woodhouse-Sakati syndrome	AR
DNAJC3	601184	?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	AR
DOLK	610746	Congenital disorder of glycosylation, type Im	AR
DPM1	603503	Congenital disorder of glycosylation, type Ie	AR
DPM2	603564	Congenital disorder of glycosylation, type Iu	AR
DPM3	605951	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15	AR
DPM3	605951	?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15	AR
DYRK1B	604556	Abdominal obesity-metabolic syndrome 3	AD
EHMT1	607001	Kleefstra syndrome 1	AD
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
EIF2B1	606686	Leukoencephalopathy with vanishing white matter	AR
EIF2S3	300161	MEHMO syndrome	XLR
ENO3	131370	?Glycogen storage disease XIII	AR
ENPP1	173335	Arterial calcification, generalized, of infancy, 1	AR
		Obesity, susceptibility to	AD, AR, MF
		Hypophosphatemic rickets, autosomal recessive, 2	AR
		Cole disease	AD
		Diabetes mellitus, non-insulin-dependent, susceptibility to	AD
EPM2A	607566	Epilepsy, progressive myoclonic 2A (Lafora)	AR
FBP1	611570	Fructose-1, 6-bisphosphatase deficiency	AR
FOXP3	300292	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	XLR
G6PC1	613742	Glycogen storage disease Ia	AR
GAA	606800	Glycogen storage disease II	AR
GATA6	601656	Persistent truncus arteriosus	-
		Atrioventricular septal defect 5	AD
		Tetralogy of Fallot	AD
		Atrial septal defect 9	AD
		Pancreatic agenesis and congenital heart defects	AD
GBE1	607839	Glycogen storage disease IV	AR
GBE1	607839	Polyglucosan body disease, adult form	AR
GCK	138079	Diabetes mellitus, permanent neonatal 1	AR
		Diabetes mellitus, noninsulin-dependent, late onset	AD
		Hyperinsulinemic hypoglycemia, familial, 3	AD
		MODY, type II	AD
GCKR	600842	[Fasting plasma glucose level QTL 5]	-
GH1	139250	Growth hormone deficiency, isolated, type IB	-
		Growth hormone deficiency, isolated, type IA	AR
		Kowarski syndrome	AR
		Growth hormone deficiency, isolated, type II	AD
GHR	600946	Hypercholesterolemia, familial, modifier of	AD, AR
		Laron dwarfism	AR
		Growth hormone insensitivity, partial	AD
		Increased responsiveness to growth hormone	AD
GHRHR	139191	Growth hormone deficiency, isolated, type IV	AR
GHRL	605353	Obesity, susceptibility to	AD, AR, MF
GLI3	165240	Pallister-Hall syndrome	AD
		Polydactyly, preaxial, type IV	AD
		Polydactyly, postaxial, types A1 and B	AD
		Greig cephalopolysyndactyly syndrome	AD
GLIS3	610192	Diabetes mellitus, neonatal, with congenital hypothyroidism	AR
GLUD1	138130	Hyperinsulinism-hyperammonemia syndrome	AD
GMPPA	615495	Alacrima, achalasia, and mental retardation syndrome	AR
GNAS	139320	Pseudohypoparathyroidism Ic	AD
		Osseous heteroplasia, progressive	AD
		Pseudopseudohypoparathyroidism	AD
		Pseudohypoparathyroidism Ia	AD
		Pseudohypoparathyroidism Ib	AD
		Pituitary adenoma 3, multiple types, somatic	-
		ACTH-independent macronodular adrenal hyperplasia	SM
		McCune-Albright syndrome, somatic, mosaic	-
GNE	603824	Nonaka myopathy	AR
GNE	603824	Sialuria	AD
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1	XLR
GPC3	300037	Wilms tumor, somatic	-
GPD1	138420	Hypertriglyceridemia, transient infantile	AR
GPIHBP1	612757	Hyperlipoproteinemia, type 1D	AR
GYS1	138570	Glycogen storage disease 0, muscle	AR
GYS2	138571	Glycogen storage disease 0, liver	AR
H6PD	138090	Cortisone reductase deficiency 1	AR
HADH	601609	3-hydroxyacyl-CoA dehydrogenase deficiency	AR
HADH	601609	Hyperinsulinemic hypoglycemia, familial, 4	AR
HEXA	606869	Tay-Sachs disease	AR
		[Hex A pseudodeficiency]	AR
		GM2-gangliosidosis, several forms	AR
HMGCL	613898	HMG-CoA lyase deficiency	AR
HMGCS2	600234	HMG-CoA synthase-2 deficiency	AR
HNF1A	142410	Diabetes mellitus, insulin-dependent	AR
		Diabetes mellitus, insulin-dependent, 20	-
		MODY, type III	AD
		Diabetes mellitus, noninsulin-dependent, 2	AD
		Hepatic adenoma, somatic	-
		Renal cell carcinoma	-
HNF1B	189907	Renal cysts and diabetes syndrome	AD
		Diabetes mellitus, noninsulin-dependent	AD
		Renal cell carcinoma	-
HNF4A	600281	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	AD
		Diabetes mellitus, noninsulin-dependent	AD
		MODY, type I	AD
HSD11B1	600713	Cortisone reductase deficiency 2	AD
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFT172	607386	Retinitis pigmentosa 71	AR
		Bardet-Biedl syndrome 20	AR
		Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IFT27	615870	?Bardet-Biedl syndrome 19	AR
IGF1R	147370	Insulin-like growth factor I, resistance to	AD, AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis	AR
INPP5E	613037	Joubert syndrome 1	AR
INS	176730	Diabetes mellitus, insulin-dependent, 2	AD
		Maturity-onset diabetes of the young, type 10	AD
		Hyperproinsulinemia	AD
		Diabetes mellitus, permanent neonatal 4	AD, AR
INSR	147670	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	-
		Rabson-Mendenhall syndrome	AR
		Hyperinsulinemic hypoglycemia, familial, 5	AD
		Leprechaunism	AR
ITCH	606409	Autoimmune disease, multisystem, with facial dysmorphism	AR
KCNJ11	600937	Maturity-onset diabetes of the young, type 13	AD
		Diabetes mellitus, transient neonatal 3	AD
		Hyperinsulinemic hypoglycemia, familial, 2	AD, AR
		Diabetes, permanent neonatal 2, with or without neurologic features	AD
		Diabetes mellitus, type 2, susceptibility to	AD
KIDINS220	615759	Ventriculomegaly and arthrogryposis	AR
KIDINS220	615759	Spastic paraplegia, intellectual disability, nystagmus, and obesity	AD
KIF7	611254	Joubert syndrome 12	AR
		?Hydrolethalus syndrome 2	AR
		?Al-Gazali-Bakalinova syndrome	AR
		Acrocallosal syndrome	AR
KLF11	603301	Maturity-onset diabetes of the young, type VII	-
KMT2C	606833	Kleefstra syndrome 2	AD
LAMP2	309060	Danon disease	XLD
LARGE1	603590	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	AR
LARGE1	603590	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	AR
LAS1L	300964	Wilson-Turner syndrome	XLR
LDHA	150000	Glycogen storage disease XI	AR
LDLR	606945	LDL cholesterol level QTL2	AD, AR
LDLR	606945	Hypercholesterolemia, familial, 1	AD, AR
LDLRAP1	605747	Hypercholesterolemia, familial, 4	AR
LEP	164160	Obesity, morbid, due to leptin deficiency	AR
LEPR	601007	Obesity, morbid, due to leptin receptor deficiency	AR
LIPA	613497	Wolman disease	AR
LIPA	613497	Cholesteryl ester storage disease	AR
LIPC	151670	[High density lipoprotein cholesterol level QTL 12]	-
		Hepatic lipase deficiency	AR
		Diabetes mellitus, noninsulin-dependent	AD
LIPE	151750	Lipodystrophy, familial partial, type 6	AR
LMF1	611761	Lipase deficiency, combined	AR
LMNA	150330	Restrictive dermopathy 2	-
		Malouf syndrome	AD
		Emery-Dreifuss muscular dystrophy 3, autosomal recessive	AR
		Emery-Dreifuss muscular dystrophy 2, autosomal dominant	AD
		Hutchinson-Gilford progeria	AD
		Muscular dystrophy, congenital	AD
		Restrictive dermopathy, lethal	AR
		Lipodystrophy, familial partial, type 2	AD
		Charcot-Marie-Tooth disease, type 2B1	AR
		Mandibuloacral dysplasia	AR
		Cardiomyopathy, dilated, 1A	AD
		Heart-hand syndrome, Slovenian type	AD
LPL	609708	[High density lipoprotein cholesterol level QTL 11]	AR
		Combined hyperlipidemia, familial	AD
		Lipoprotein lipase deficiency	AR
LZTFL1	606568	Bardet-Biedl syndrome 17	AR
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAN1B1	604346	Rafiq syndrome	AR
MC3R	155540	Obesity, severe, susceptibility to, BMIQ9	-
MC4R	155541	Obesity (BMIQ20)	AD, AR
MC4R	155541	Obesity, resistance to (BMIQ20)	AD, AR
MEGF8	604267	Carpenter syndrome 2	AR
MGAT2	602616	Congenital disorder of glycosylation, type IIa	AR
MKKS	604896	McKusick-Kaufman syndrome	AR
MKKS	604896	Bardet-Biedl syndrome 6	AR
MKRN3	603856	Precocious puberty, central, 2	AD
MKS1	609883	Bardet-Biedl syndrome 13	AR
		Joubert syndrome 28	AR
		Meckel syndrome 1	AR
MOGS	601336	Congenital disorder of glycosylation, type IIb	AR
MPDU1	604041	Congenital disorder of glycosylation, type If	AR
MPI	154550	Congenital disorder of glycosylation, type Ib	AR
MPV17	137960	Charcot-Marie-Tooth disease, axonal, type 2EE	AR
MPV17	137960	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	AR
MRAP2	615410	?Obesity, susceptibility to, BMIQ18	AD
MTNR1B	600804	Diabetes mellitus, type 2, susceptibility to	AD
MTTP	157147	Metabolic syndrome, protection against	AD
MTTP	157147	Abetalipoproteinemia	AR
MYO5A	160777	Griscelli syndrome, type 1	AR
MYO7A	276903	Deafness, autosomal dominant 11	AD
		Usher syndrome, type 1B	AR
		Deafness, autosomal recessive 2	AR
MYT1L	613084	Mental retardation, autosomal dominant 39	AD
NDN	602117	Prader-Willi syndrome	AD
NEUROD1	601724	Type 2 diabetes mellitus, susceptibility to	AD
NEUROD1	601724	Maturity-onset diabetes of the young 6	-
NEUROG3	604882	Diarrhea 4, malabsorptive, congenital	AR
NGLY1	610661	Congenital disorder of deglycosylation	AR
NHLRC1	-	Epilepsy, progressive myoclonic 2B (Lafora)	AR
NPHP1	607100	Joubert syndrome 4	AR
		Nephronophthisis 1, juvenile	AR
		Senior-Loken syndrome-1	AR
NPHP3	608002	Nephronophthisis 3	AR
		Meckel syndrome 7	AR
		Renal-hepatic-pancreatic dysplasia 1	AR
NR0B2	604630	Obesity, mild, early-onset	AD, AR, MF
NSD1	606681	Sotos syndrome 1	AD
NTRK2	600456	Developmental and epileptic encephalopathy 58	AD
NTRK2	600456	Obesity, hyperphagia, and developmental delay	AD
OFD1	300170	Joubert syndrome 10	XLR
		Simpson-Golabi-Behmel syndrome, type 2	XLR
		?Retinitis pigmentosa 23	XLR
		Orofaciodigital syndrome I	XLD
OXCT1	-	Succinyl CoA:3-oxoacid CoA transferase deficiency	AR
PAX4	167413	Maturity-onset diabetes of the young, type IX	-
		Diabetes mellitus, ketosis-prone, susceptibility to	AD, AR
		Diabetes mellitus, type 2	AD
PAX6	607108	?Coloboma, ocular	AD
		Aniridia	AD
		?Morning glory disc anomaly	AD
		Keratitis	AD
		Optic nerve hypoplasia	AD
		?Coloboma of optic nerve	AD
		Anterior segment dysgenesis 5, multiple subtypes	AD
		Cataract with late-onset corneal dystrophy	AD
		Foveal hypoplasia 1	AD
PC	608786	Pyruvate carboxylase deficiency	AR
PCBD1	126090	Hyperphenylalaninemia, BH4-deficient, D	AR
PCK1	614168	?Phosphoenolpyruvate carboxykinase deficiency, cytosolic	AR
PCNT	605925	Microcephalic osteodysplastic primordial dwarfism, type II	AR
PCSK1	162150	Obesity with impaired prohormone processing	AR
PCSK1	162150	Obesity, susceptibility to, BMIQ12	-
PCSK9	607786	Hypercholesterolemia, familial, 3	AD
PCSK9	607786	Low density lipoprotein cholesterol level QTL 1	AD
PDE11A	604961	Pigmented nodular adrenocortical disease, primary, 2	AD
PDE4D	600129	Acrodysostosis 2, with or without hormone resistance	AD
PDX1	600733	Pancreatic agenesis 1	AR
		MODY, type IV	-
		Diabetes mellitus, type II, susceptibility to	AD
PFKM	610681	Glycogen storage disease VII	AR
PGAM2	612931	Glycogen storage disease X	AR
PGK1	311800	Phosphoglycerate kinase 1 deficiency	XLR
PGM1	171900	Congenital disorder of glycosylation, type It	AR
PHF6	300414	Borjeson-Forssman-Lehmann syndrome	XLR
PHIP	612870	Chung-Jansen syndrome	AD
PHKA1	311870	Muscle glycogenosis	XLR
PHKA2	300798	Glycogen storage disease, type IXa1	XLR
PHKA2	300798	Glycogen storage disease, type IXa2	XLR
PHKB	172490	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	AR
PHKG2	172471	Glycogen storage disease IXc	AR
PIK3R1	171833	?Agammaglobulinemia 7, autosomal recessive	AR
		Immunodeficiency 36	AD
		SHORT syndrome	AD
PMM2	601785	Congenital disorder of glycosylation, type Ia	AR
PNPLA6	603197	Spastic paraplegia 39, autosomal recessive	AR
		Boucher-Neuhauser syndrome	AR
		Oliver-McFarlane syndrome	AR
		?Laurence-Moon syndrome	AR
POLD1	174761	Colorectal cancer, susceptibility to, 10	AD
POLD1	174761	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	AD
POMC	176830	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	AR
POMC	176830	Obesity, early-onset, susceptibility to	AD, AR, MF
PPARG	-	Carotid intimal medial thickness 1	-
		Obesity, severe	AD, AR, MF
		Lipodystrophy, familial partial, type 3	AD
		Diabetes, type 2	AD
		Insulin resistance, severe, digenic	AD
PPP1R15B	613257	Microcephaly, short stature, and impaired glucose metabolism 2	AR
PRKAG2	602743	Glycogen storage disease of heart, lethal congenital	AD
		Cardiomyopathy, hypertrophic 6	AD
		Wolff-Parkinson-White syndrome	AD
PRKAR1A	188830	Myxoma, intracardiac	AD
		Pigmented nodular adrenocortical disease, primary, 1	AD
		Carney complex, type 1	AD
		Acrodysostosis 1, with or without hormone resistance	AD
PRMT7	610087	Short stature, brachydactyly, intellectual developmental disability, and seizures	AR
PROM1	604365	Cone-rod dystrophy 12	AD, AR
		Macular dystrophy, retinal, 2	AD
		Retinitis pigmentosa 41	AR
		Stargardt disease 4	AD
PRPH2	179605	Retinitis pigmentosa 7 and digenic form	AD, AR, DD
		Retinitis punctata albescens	AD, AR
		Choroidal dystrophy, central areolar 2	AD
		Macular dystrophy, patterned, 1	AD
		Macular dystrophy, vitelliform, 3	AD
		Leber congenital amaurosis 18	AD, AR, DD
PTEN	601728	Cowden syndrome 1	AD
		Lhermitte-Duclos syndrome	AD
		Macrocephaly/autism syndrome	AD
		Glioma susceptibility 2	-
		Meningioma	AD
		Prostate cancer, somatic	-
PTF1A	607194	Pancreatic and cerebellar agenesis	AR
PTF1A	607194	Pancreatic agenesis 2	AR
PYGL	613741	Glycogen storage disease VI	AR
PYGM	608455	McArdle disease	AR
RAB23	606144	Carpenter syndrome	AR
RAI1	607642	Smith-Magenis syndrome	AD, IC
RBCK1	610924	Polyglucosan body myopathy 1 with or without immunodeficiency	AR
RDH5	601617	Fundus albipunctatus	AD, AR
RFT1	611908	Congenital disorder of glycosylation, type In	AR
RFX6	612659	Mitchell-Riley syndrome	AR
RHO	180380	Retinitis punctata albescens	AD, AR
		Retinitis pigmentosa 4, autosomal dominant or recessive	AD, AR
		Night blindness, congenital stationary, autosomal dominant 1	-
RLBP1	180090	Newfoundland rod-cone dystrophy	-
		Fundus albipunctatus	AD, AR
		Retinitis punctata albescens	AD, AR
		Bothnia retinal dystrophy	AR
RPGRIP1L	610937	Joubert syndrome 7	AR
		?COACH syndrome 3	AR
		Meckel syndrome 5	AR
RPS6KA3	300075	Coffin-Lowry syndrome	XLD
RPS6KA3	300075	Mental retardation, X-linked 19	XLD
SDCCAG8	613524	Bardet-Biedl syndrome 16	AR
SDCCAG8	613524	Senior-Loken syndrome 7	AR
SETD2	612778	Luscan-Lumish syndrome	AD
		Rabin-Pappas syndrome	-
		Intellectual developmental disorder, autosomal dominant 70	-
SLC16A1	600682	Hyperinsulinemic hypoglycemia, familial, 7	AD
		Erythrocyte lactate transporter defect	AD
		Monocarboxylate transporter 1 deficiency	AD, AR
SLC19A2	603941	Thiamine-responsive megaloblastic anemia syndrome	AR
SLC29A3	612373	Histiocytosis-lymphadenopathy plus syndrome	AR
SLC2A2	138160	Fanconi-Bickel syndrome	AR
SLC2A2	138160	Diabetes mellitus, noninsulin-dependent	AD
SLC35A1	605634	Congenital disorder of glycosylation, type IIf	AR
SLC35A2	314375	Congenital disorder of glycosylation, type IIm	Somatic mosaicism, XLD
SLC35C1	605881	Congenital disorder of glycosylation, type IIc	AR
SNRPN	182279	Prader-Willi syndrome	AD
SPG11	610844	Spastic paraplegia 11, autosomal recessive	AR
		Amyotrophic lateral sclerosis 5, juvenile	AR
		Charcot-Marie-Tooth disease, axonal, type 2X	AR
SRD5A3	611715	Congenital disorder of glycosylation, type Iq	AR
SRD5A3	611715	Kahrizi syndrome	AR
SSR4	300090	Congenital disorder of glycosylation, type Iy	XLR
STAT1	600555	Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant	AD
		Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive	AR
		Immunodeficiency 31A, mycobacteriosis, autosomal dominant	AD
STAT3	102582	Hyper-IgE recurrent infection syndrome	AD
STAT3	102582	Autoimmune disease, multisystem, infantile-onset, 1	AD
TBX3	601621	Ulnar-mammary syndrome	AD
THOC2	300395	Mental retardation, X-linked 12/35	XLR
THRA	190120	Hypothyroidism, congenital, nongoitrous, 6	AD
TMEM165	614726	Congenital disorder of glycosylation, type IIk	AR
TMEM67	609884	COACH syndrome 1	AR
		?RHYNS syndrome	AR
		Meckel syndrome 3	AR
		Joubert syndrome 6	AR
		Bardet-Biedl syndrome 14, modifier of	AR
		Nephronophthisis 11	AR
TRAF3IP1	607380	Senior-Loken syndrome 9	AR
TRAPPC9	611966	Mental retardation, autosomal recessive 13	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8	AR
TRIM32	602290	?Bardet-Biedl syndrome 11	AR
TRMT10A	616013	Microcephaly, short stature, and impaired glucose metabolism 1	AR
TTC21B	612014	Short-rib thoracic dysplasia 4 with or without polydactyly	AR
TTC21B	612014	Nephronophthisis 12	AD, AR
TTC8	-	Bardet-Biedl syndrome 8	AR
TTC8	-	?Retinitis pigmentosa 51	AR
TUSC3	601385	Mental retardation, autosomal recessive 7	AR
UCP2	601693	Obesity, susceptibility to, BMIQ4	-
UCP3	602044	Obesity, severe, and type II diabetes	AD, AR, MF
VPS13B	607817	Cohen syndrome	AR
WFS1	606201	?Cataract 41	AD
		Wolfram-like syndrome, autosomal dominant	AD
		Wolfram syndrome 1	AR
		Diabetes mellitus, noninsulin-dependent, association with	AD
		Deafness, autosomal dominant 6/14/38	AD
XRCC4	194363	Short stature, microcephaly, and endocrine dysfunction	AR
XYLT1	-	Desbuquois dysplasia 2	AR
XYLT1	-	Pseudoxanthoma elasticum, modifier of severity of	AR
ZBTB20	606025	Primrose syndrome	AD
ZFP57	612192	Diabetes mellitus, transient neonatal 1	AD
ZMPSTE24	606480	Restrictive dermopathy, lethal	AR
ZMPSTE24	606480	Mandibuloacral dysplasia with type B lipodystrophy	AR
ZNF711	314990	Mental retardation, X-linked 97	XL

COMMON SYNDROMES AND DISORDERS COVERED

Bardet-Biedl syndrome
Congenital glycosylation disease
Congenital hyperinsulinism
Congenital hypothyroidism
Diabetes insipidus
Growth hormone deficiency
Familial hypercholesterolemia
Hypoglycemia
Maturity onset diabetes of the young
Neonatal diabetes
Obesity

Pancreatitis panel

Our pancreatitis panel includes genes associated with chronic pancreatitis. It can also be used for differential diagnosis, as it includes genes associated with pancreatic cancer.

No. of genes:	29
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis Sanger sequencing: CFTR

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCB4	171060	Gallbladder disease 1	AD, AR
		Cholestasis, progressive familial intrahepatic 3	AR
		Cholestasis, intrahepatic, of pregnancy, 3	AD, AR
APC	611731	Colorectal cancer, somatic	-
		Gastric cancer, somatic	-
		Gastric adenocarcinoma and proximal polyposis of the stomach	AD
		Desmoid disease, hereditary	AD
		Adenomatous polyposis coli	AD
		Gardner syndrome	AD
		Brain tumor-polyposis syndrome 2	AD
		Hepatoblastoma, somatic	-
APOA5	606368	Hyperchylomicronemia, late-onset	AD
APOA5	606368	Hypertriglyceridemia, susceptibility to	AD
APOC2	-	Hyperlipoproteinemia, type Ib	AR
ATM	607585	Breast cancer, susceptibility to	AD, SM
ATM	607585	Ataxia-telangiectasia	AR
BMPR1A	601299	Polyposis, juvenile intestinal	AD
		Juvenile polyposis syndrome, infantile form	AD
		Polyposis syndrome, hereditary mixed, 2	-
BRCA1	113705	Breast-ovarian cancer, familial, 1	AD, MF
		Pancreatic cancer, susceptibility to, 4	-
		Fanconi anemia, complementation group S	AR
BRCA2	600185	Prostate cancer	AD, SM
		Breast-ovarian cancer, familial, 2	AD
		Glioblastoma 3	AR
		Wilms tumor	AD, SM
		Pancreatic cancer 2	-
		Breast cancer, male, susceptibility to	AD, SM
		Fanconi anemia, complementation group D1	AR
		Medulloblastoma	AD, AR, SM
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8	-
		Hypocalcemia, autosomal dominant, with Bartter syndrome	AD
		Hypocalciuric hypercalcemia, type I	AD
		Hyperparathyroidism, neonatal	AD, AR
		Hypocalcemia, autosomal dominant	AD
CDKN2A	600160	Melanoma and neural system tumor syndrome	AD
		Melanoma-pancreatic cancer syndrome	AD
		Melanoma, cutaneous malignant, 2	AD
CFTR	602421	Congenital bilateral absence of vas deferens	AR
		Pancreatitis, hereditary	AD
		Bronchiectasis with or without elevated sweat chloride 1, modifier of	AD
		Cystic fibrosis	AR
CTRC	601405	Pancreatitis, chronic, susceptibility to	AD
EPCAM	185535	Colorectal cancer, hereditary nonpolyposis, type 8	AD
EPCAM	185535	Diarrhea 5, with tufting enteropathy, congenital	AR
GPIHBP1	612757	Hyperlipoproteinemia, type 1D	AR
LPL	609708	[High density lipoprotein cholesterol level QTL 11]	AR
		Combined hyperlipidemia, familial	AD
		Lipoprotein lipase deficiency	AR
MEN1	613733	Multiple endocrine neoplasia 1	AD
MLH1	120436	Mismatch repair cancer syndrome 1	AR
		Muir-Torre syndrome	AD
		Colorectal cancer, hereditary nonpolyposis, type 2	-
MSH2	609309	Muir-Torre syndrome	AD
		Colorectal cancer, hereditary nonpolyposis, type 1	AD
		Mismatch repair cancer syndrome 2	AR
MSH6	600678	Colorectal cancer, hereditary nonpolyposis, type 5	AD
		Endometrial cancer, familial	AD, SM
		Mismatch repair cancer syndrome 3	AR
PALB2	610355	Pancreatic cancer, susceptibility to, 3	-
		Fanconi anemia, complementation group N	-
		Breast cancer, susceptibility to	AD, SM
PMS2	600259	Colorectal cancer, hereditary nonpolyposis, type 4	-
PMS2	600259	Mismatch repair cancer syndrome 4	AR
PRSS1	276000	Pancreatitis, hereditary	AD
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	AD
		Pancreatic cancer, somatic	-
		Myhre syndrome	AD
		Polyposis, juvenile intestinal	AD
SPINK1	167790	Tropical calcific pancreatitis	AD, AR
		Pancreatitis, hereditary	AD
		Fibrocalculous pancreatic diabetes, susceptibility to	AD, AR
STK11	602216	Peutz-Jeghers syndrome	AD
		Melanoma, malignant, somatic	-
		Testicular tumor, somatic	-
		Pancreatic cancer, somatic	-
TP53	191170	Hepatocellular carcinoma, somatic	-
		Bone marrow failure syndrome 5	AD
		Basal cell carcinoma 7	AD
		Nasopharyngeal carcinoma, somatic	-
		Choroid plexus papilloma	AD
		Glioma susceptibility 1	AD, SM
		Pancreatic cancer, somatic	-
		Breast cancer, somatic	-
		Li-Fraumeni syndrome	AD
		Adrenocortical carcinoma, pediatric	AD
		Osteosarcoma	SM
		Colorectal cancer	AD, SM
UBR1	605981	Johanson-Blizzard syndrome	AR
VHL	608537	Pheochromocytoma	AD
		von Hippel-Lindau syndrome	AD
		Renal cell carcinoma, somatic	-
		Erythrocytosis, familial, 2	AR

COMMON SYNDROMES AND DISORDERS COVERED

Pancreatic cancer
Pancreatitis

Congenital adrenal hyperplasia(CAH) panel

Our congenital adrenal hyperplasia (CAH) panel is designed for patients suspected of having CAH. CAH is a group of inherited disorders characterized by improper functioning of the adrenal glands, leading to abnormal production of steroid hormones, such as a cortisol or aldosterone. Our panel includes the analysis of the CYP21A2 gene, which codes for the enzyme 21-hydroxylase. More than 90.0% of CAH cases are caused by a deficiency of this enzyme.

No. of genes:	12
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis MLPA: CYP21A2 Sanger sequencing: CYP21A2

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ARMC5	615549	ACTH-independent macronodular adrenal hyperplasia 2	AD, SM
CYP11A1	118485	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	-
CYP11B1	610613	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	AR
CYP11B1	610613	Aldosteronism, glucocorticoid-remediable	AD
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO II deficiency	AR
CYP11B2	124080	Hypoaldosteronism, congenital, due to CMO I deficiency	AR
CYP17A1	609300	17, 20-lyase deficiency, isolated	AR
CYP17A1	609300	17-alpha-hydroxylase/17, 20-lyase deficiency	AR
CYP21A2	613815	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	AR
CYP21A2	613815	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	AR
HSD3B2	613890	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	AR
PDE11A	604961	Pigmented nodular adrenocortical disease, primary, 2	AD
PDE8B	603390	Striatal degeneration, autosomal dominant	AD
PDE8B	603390	Pigmented nodular adrenocortical disease, primary, 3	-
POR	124015	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	-
POR	124015	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	AR
PRKAR1A	188830	Myxoma, intracardiac	AD
		Pigmented nodular adrenocortical disease, primary, 1	AD
		Carney complex, type 1	AD
		Acrodysostosis 1, with or without hormone resistance	AD
STAR	600617	Lipoid adrenal hyperplasia	AR

COMMON SYNDROMES AND DISORDERS COVERED

Congenital adrenal hyperplasia

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Endocrinology

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.