Gendia | Molecular Tests Ordered by Gene

Molecular Tests (Ordered by Gene)

The molecular analysis includes analyses of all protein-coding sequences unless specified otherwise in the comment column.

If you don't find the disease (or gene) of interest in the alphabetical list, you can search the whole table with the Ctrl-F function:

1. Hold the Ctrl key, then press the F key
2. Type in the disease (gene) of interest
3. If the disease (gene) can be found, it is highlightened in black in the table

Information on mutations and genomic structure of genes can be found by clicking on Mutation information.

A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

Gene	Gene OMIM	Disease	Disease OMIM	Comment
AAAS (ALADIN, ADRACALIN)	605378	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA » TRIPLE-A SYNDROME » ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER » GLUCOCORTICOID DEFICIENCY AND ACHALASIA » ALLGROVE SYNDROME » ADDISONIAN-ACHALASIA SYNDROME » HYPOADRENALISM WITH ACHALASIA » ALACRIMA-ACHALASIA-ADDISONIANISM » ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA » ACHALASIA-ALACRIMA SYNDROME	231550
ABCA4 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4, ABCR)	601691	STARGARDT DISEASE, TYPE 1 » MACULAR DEGENERATION, JUVENILE » FUNDUS FLAVIMACULATUS » MACULAR DYSTROPHY WITH FLECKS, TYPE 1	248200
		MACULAR DEGENERATION, AGE-RELATED, TYPE 2 » MACULOPATHY, AGE-RELATED, TYPE 2 » MACULAR DEGENERATION, SENILE	153800
		RETINITIS PIGMENTOSA 19, RP19	601718
		CONE-ROD DYSTROPHY, TYPE 3, CORD3	604116
ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)	607800	ICHTHYOSIS, LAMELLAR, 2, LI2 » LAMELLAR ICHTHYOSIS, TYPE 2 » ICHTHYOSIS CONGENITA 2B	601277	5 Exons: 28-32
ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)	607800	ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE » HARLEQUIN ICHTHYOSIS	242500	Whole Gene
ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1)	600509	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1 » PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY » HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY » HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA » NESIDIOBLASTOSIS OF PANCREAS » HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS » HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME	256450
	600509	DIABETES MELLITUS, PERMANENT NEONATAL	606176
ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)	300135	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	301310	.
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6)	603234	PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE » GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)	264800	.
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6)	603234	PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE » GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL DOMINANT)	177850	.
ABCD1	300371	ADRENOLEUKODYSTROPHY, ALD » ADRENOMYELONEUROPATHY, AMN	300100
ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)	604773	ISOBUTYRYL GLYCINURIA » ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY » ACAD8 DEFICIENCY	604773	.
ACADM	607008	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD	201450	Whole Gene or 1 Mutation: K329E
ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN)	606885	D DEFICIENCY » SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY	201470	Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)	600301	2-ALPHA-METHYLBUTYRYLGLYCINURIA » 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY, MBD	600301	.
ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)	609575	ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY	201475	.
ACTA1 (ACTIN)	102610	ACTIN MYOPATHY	102610	.
		NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1	161800	.
		NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2	256030	.
		MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION	255310
ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN)	102540	DILATED CARDIOMYOPATHY		See ACTC, MYL2 and MYL3
	102540	HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1 » VENTRICULAR HYPERTROPHY, HEREDITARY » ASYMMETRIC SEPTAL HYPERTROPHY » HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC	192600	See ACTC, MYL2 and MYL3
ACTC MYL2 MYL3		HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL » VENTRICULAR HYPERTROPHY, HEREDITARY » ASYMMETRIC SEPTAL HYPERTROPHY » HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		19 Exons
ACTN4 (ACTININ, ALPHA-4)	604638	FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1	603278
ADA (ADENOSINE DEAMINASE, ADENOSINE AMINOHYDROLASE)	608958	SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, SCID	102700
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)	604134	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL, TTP » SCHULMAN-UPSHAW SYNDROME	274150	.
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)	604134	HEMOLYTIC-UREMIC SYNDROME, HUS » COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1	235400	.
ADSL (ADENYLOSUCCINATE LYASE)	103050	ADENYLOSUCCINASE DEFICIENCY » SUCCINYLPURINEMIC AUTISM	103050	Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME)	610860	GLYCOGEN STORAGE DISEASE, TYPE 3 » GSD TYPE 3 » FORBES DISEASE » CORI DISEASE » AMYLO-1,6-GLUCOSIDASE DEFICIENCY » GLYCOGEN DEBRANCHER DEFICIENCY	232400
AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)	604285	HYPEROXALURIA, PRIMARY, TYPE 1 » OXALOSIS 1 » GLYCOLIC ACIDURIA » ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY » HEPATIC AGT DEFICIENCY » SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY	259900	Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations)
AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN)	608894	JOUBERT SYNDROME, TYPE 3	608629
AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)	605257	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 » HYPER-IgM SYNDROME 2	605258
AICDA, CD40, CD40LG, UNG		IMMUNODEFICIENCY WITH HYPER-IgM » HYPER-IgM SYNDROME	.
AIRE (AUTOIMMUNE REGULATOR)	607358	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1 » AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED » AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1 » HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS » POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE	240300	Whole Gene
ALDOB (ALDOLASE B)	229600	FRUCTOSE INTOLERANCE » FRUCTOSEMIA » FRUCTOSE-1-PHOSPHATE » ALDOLASE B DEFICIENCY	229600	Whole Gene or 3 Common Mutations: A149P, A174D, N334K
ALK1 (ACTIVIN A RECEPTOR, TYPE II-LIKE 1, ACVRL1)	601284	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2 » OSLER-RENDU-WEBER DISEASE, TYPE 2 » ORW DISEASE, TYPE 2	600376
ALMS1	606844	ALSTROM SYNDROME, ALMS	203800	Exons 10, 16, and part of Exon 8
ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE)	603741	ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL	242100
ALOXE3 (ARACHIDONATE LIPOXYGENASE 3, LIPOXYGENASE TYPE 3)	607206	ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL	242100
ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF)	605420	PARIETAL FORAMINA, TYPE 2 » FORAMINA PARIETALIA PERMAGNA » CATLIN MARKS	609597
AMPD1 (AMP DEAMINASE)	102770	MYOADENYLATE DEAMINASE DEFICIENCY	102770	2 Mutations: Q12X, P48L
AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN)	238310	NONKETOTIC HYPERGLYCINEMIA » GLYCINE ENCEPHALOPATHY	605899
ANG (ANGIOGENIN, RNASE5)	105850	AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1	105400
ANGELMAN	..	See UBE3A	.	.
ANTITRYPSINE	..	See PI	.	.
APC	175100	POLYPOSIS COLI, ADENOMATOUS » FAMILIAL ADENOMATOUS POLYPOSIS, FAP » ATTENUATED POLYPOSIS COLI	175100	Whole Gene or MLPA for Deletions-Duplications
APOA1 (APOLIPOPROTEIN A-1)	107680	HYPO-ALPHALIPOPROTEINEMIA	604091	L178P Mutation
APOB (APOLIPOPROTEIN B, APOB100, APOB48)	107730	HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B » APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE	144010	2 Mutations: R3500Q and R3531C
		HYPERCHOLESTEROLEMIA	143890	3 mutations: R3500Q, R3500W, H3543Y
		HYPOBETALIPOPROTEINEMIA, FAMILIAL » ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE » FAMILIAL HYPOBETALIPOPROTEINEMIA » ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA	107730	Whole Gene
APOC2 (APOLIPOPROTEIN C2)	207750	HYPERCHYLOMICRONEMIA	207750	.
APOE (APOLIPOPROTEIN E)	107741	DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E » APOLIPOPROTEIN E DEFICIENCY » HYPERLIPOPROTEINEMIA, TYPE 3 » FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA » FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA	107741	.
APP	104760	ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1	104300	Whole Gene or Exons 16 and 17 harbouring the majority of mutations
APP	104760	CEREBRAL AMYLOID ANGIOPATHY » AMYLOIDOSIS, CEREBROARTERIAL » AMYLOIDOSIS 6 » HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA » AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY	105150	Whole Gene or Exons 16 and 17 harbouring the majority of mutations
APRT (ADENINE PHOSPHORIBOSYLTRANSFERASE)	102600	APRT DEFICIENCY	102600
APTX (APRATAXIN)	606350	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA » ATAXIA-OCULOMOTOR APRAXIA SYNDROME » ATAXIA-OCULOMOTOR APRAXIA 1 » ATAXIA-TELANGIECTASIA-LIKE SYNDROME » CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA » ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA	208920
AQP2 (AQUAPORIN 2)	107777	DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE)	222000	.
AQP2 (AQUAPORIN 2)	107777	DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT)	125800	.
AR (ANDROGEN RECEPTOR)	313700	ANDROGEN INSENSITIVITY SYNDROME, AIS	300068	.
		REIFENSTEIN SYNDROME	312300	.
		HYPOSPADIAS (X-LINKED)	.	.
		KENNEDY DISEASE » SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA	313200	Repeat
ARH	605747	HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH	603813	.
ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)	602753	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2	602078	.
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE)	607574	METACHROMATIC LEUKODYSTROPHY » SULFATIDE LIPIDOSIS » ARYLSULFATASE A DEFICIENCY	250100
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE)	607574	PSEUDOARYLSULFATASE A DEFICIENCY	250100
ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE)	253200	MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 » MAROTEAUX-LAMY SYNDROME » ARYLSULFATASE B DEFICIENCY » N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY	253200	.
ARSC1 (STEROID SULFATASE, STS)	308100	ICHTHYOSIS (X-LINKED) » STEROID SULFATASE DEFICIENCY	308100	Deletion
ARX	300382	INFANTILE SPASMS (X-LINKED), ISS X » WEST SYNDROME » EPILEPSY, INFANTILE SPASMS (X-LINKED)	308350	See also Mental Retardation Panel
		PARTINGTON SYNDROME, MRXS1 » MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1	309510
		LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED)	300215
		MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED)	300432
		MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54	300412
ASPA (ASPARTOACYLASE)	271900	CANAVAN DISEASE » (See also Molecular Screening Tests)	271900	3 Mutations: E285A, A305E, Y231X
ASS (ARGININOSUCCINATE SYNTHETASE)	603470	CITRULLINEMIA, CLASSIC » CITRULLINEMIA, TYPE 1 » CITRULLINURIA » ARGININOSUCCINATE SYNTHETASE DEFICIENCY	215700
AT3 (SERPINC1)	107300	ANTITHROMBIN 3 DEFICIENCY » THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3	107300	.
ATM	607585	ATAXIA-TELANGIECTASIA, AT » LOUIS-BAR SYNDROME	208900	.
ATP1A2	182340	FAMILIAL PARAPLEGIC MIGRAINE TYPE 2	602481	Whole Gene or 2 Mutations: L764P and W887R
ATP2A2 (ATP2B, SERCA2)	108740	DARIER-WHITE DISEASE » KERATOSIS FOLLICULARIS » DARIER DISEASE	124200
ATP2A2 (ATP2B, SERCA2)	108740	ACROKERATOSIS VERRUCIFORMIS » HOPF DISEASE	101900
ATP2C1	604384	HAILEY-HAILEY DISEASE » PEMPHIGUS, BENIGN FAMILIAL	169600
ATP6V1B1 (ATP6B1 VACUOLAR PROTON PUMP, SUBUNIT 3, VPP3)	192132	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS	267300	.
ATP7A	300011	MENKES DISEASE » KINKY HAIR DISEASE	309400	.
ATP7A	300011	NEONATAL CUTIS LAXA » OCCIPITAL HORN SYNDROME	304150	.
ATP7B	606882	WILSON DISEASE » HEPATOLENTICULAR DEGENERATION	277900	Whole Gene or 1 Mutation: HIS1069GLN
ATP8B1 (FIC1)	602397	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC » SUMMERSKILL SYNDROME	243300	.
ATP8B1 (FIC1)	602397	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 » BYLER DISEASE	211600
ATP6V0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, SUBUNIT 2, VPP	605239	RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) » RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING » RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET SENSORINEURAL HEARING LOSS	602722	.
ATROPHIN1	..	See DRPLA	.	.
ATRX (XNP)	300032	ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED) » ATR-X SYNDROME » XLMR-HYPOTONIC FACE SYNDROME » MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME	301040	Blood in RNA PAX tubes
		JUBERG-MARSIDI SYNDROME » MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)	309590	Blood in RNA PAX tubes
		SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME » MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME	309580	Blood in RNA PAX tubes
ATX1 (ATAXIN 1, SCA1, OPCA1)	601556	SPINOCEREBELLAR ATAXIA 1, SCA1	164400	See SCA1, SCA2, SCA3, SCA6, SCA7
ATX2 (ATAXIN 2, SCA2, OPCA2)	601517	SPINOCEREBELLAR ATAXIA 2, SCA2	183090	See SCA1, SCA2, SCA3, SCA6, SCA7
ATX3 (ATAXIN 3, SCA3)	607047	SPINOCEREBELLAR ATAXIA 3, SCA3 » MACHADO-JOSEPH DISEASE	109150	See SCA1, SCA2, SCA3, SCA6, SCA7
ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8)	603680	SPINOCEREBELLAR ATAXIA 8, SCA8	608768	Repeat
ATXN10 (SCA10)	603516	SPINOCEREBELLAR ATAXIA 10, SCA10	603516	Repeat
AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)	600529	3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1 » 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY	250950	.
AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)	304800	DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED)	304800	.
AZFa, AZFb and AZFc (including DAZ)	415000	AZOSPERMIA-OLIGOSPERMIA » SERTOLI-CELL-ONLY SYNDROME » MALE INFERTILITY	415000	Deletions

A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

Gene	Gene OMIM	Disease	Disease OMIM	Comment
BBS1	209901	BARDET-BIEDL SYNDROME TYPE 1, BBS1	209900
BBS2	606151	BARDET-BIEDL SYNDROME TYPE 2, BBS2	209900
BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE)	603647	CYTOCHROME c OXIDASE DEFICIENCY » COX DEFICIENCY » COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF	124000	.
		GRACILE SYNDROME » GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH » FINNISH LETHAL NEONATAL METABOLIC SYNDROME » LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS » FELLMAN SYNDROME	603358	.
		LEIGH SYNDROME	256000	.
BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE)	608348	MAPLE SYRUP URINE DISEASE » BRANCHED-CHAIN KETOACIDURIA » BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY » KETO ACID DECARBOXYLASE DEFICIENCY » LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO	248600
BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)	601299	JUVENILE POLYPOSIS SYNDROME	174900
		POLYPOSIS SYNDROME, HEREDITARY MIXED, TYPE 2	610069
		COWDEN DISEASE » LHERMITTE-DUCLOS DISEASE	158350
BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)	603248	BRACHYDACTYLY TYPE A2, BDA2 » BRACHYMESOPHALANGY 2 » MOHR - WRIEDT TYPE BRACHYDACTYLY	112600	.
BMPR2	600799	PRIMARY PULMONARY HYPERTENSION, PPH1	178600	.
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1)	164757	CARDIOFACIOCUTANEOUS SYNDROME, CFC	115150
		LYMPHOMA, NON-HODGKIN
		NONSMALL CELL LUNG CANCER, SOMATIC
		ADENOCARCINOMA OF LUNG, SOMATIC
		COLORECTAL CANCER, SOMATIC
		THYROID CARCINOMA, PAPILLARY, SOMATIC
		MELANOMA, MALIGNANT, SOMATIC
BRCA1	113705	BREAST AND OVARIAN CANCER	113705	Whole Gene (sequencing and MLPA)
BRCA1	113705	PROSTATE CANCER	176807	Whole Gene (sequencing and MLPA)
BRCA1 and BRCA2	..	BREAST AND OVARIAN CANCER	.	2 Whole Genes (sequencing and MLPA) or MLPA Discounts are available for more than 100 tests per year
BRCA1 and BRCA2	..	PROSTATE CANCER	176807	2 Whole Genes (sequencing and MLPA) or MLPA Discounts are available for more than 100 tests per year
BRCA2	600185	BREAST AND OVARIAN CANCER	600185	Whole Gene (sequencing and MLPA) or 3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)
BRCA2	600185	PROSTATE CANCER	176807	Whole Gene (sequencing and MLPA) or 3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)