Description, Method and Delivery Term Modification
Changes made in the tests listed are
detailed below. Previous description appears
preceding the new test description.
Effective update from 03/10/2019
Test
|
PREVIOUS DESCRIPTION / NEW DESCRIPTION
|
Method
|
Delivery Term
|
1093
|
Simpson-Golabi-Behmel Syndrome (GPC3) MLPA, total blood
SIMPSON-GOLABI-BEHMEL SYNDROME · GPC3, GPC4 · MLPA |
MLPA
|
22
|
1111
|
Frontotemporal Dementia (MAPT, PGRN) MLPA, total blood
NEURODEGENERATIVE DISEASES · MAPT, GRN · MLPA |
MLPA
|
22
|
1151
|
Glycogenosis type 1a (G6PC) NGS, total blood
GLYCOGENOSIS DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE 1A · G6PC · SANGER |
Sanger
|
32
|
1174
|
Robinow Syndrome (ROR2) sequencing, total blood
ROBINOW AR SYNDROME · ROR2 · SANGER |
Sanger
|
32
|
1177
|
Cornelia de Lange Syndrome (NIPBL) NGS, total blood
CORNELIA DE LANGE 1 SYNDROME · NIPBL · SANGER |
NGS
|
32
|
1238
|
Severe Congenital Neutropenia (HAX1) sequencing, total blood
SEVERE CONGENITAL NEUTROPENIA TYPE 3 · HAX1 · SANGER |
Sanger
|
32
|
1255
|
Waardenburg Syndrome (PAX3) NGS, total blood
WAARDENBURG TYPE 1 AND 3 SYNDROME · PAX3 · SANGER |
Sanger
|
32
|
1277
|
Kearns-Sayre Syndrome (del'77pb-DNAmt) screening, total blood
KEARNS-SAYRE SYNDROME · ADNmt · MLPA |
MLPA
|
22
|
1282
|
Albinism, type 1 (TYR) sequencing, total blood
OCULOCUTANEOUS ALBINISM (TYPE IA AND IB) · TYR · SANGER |
Sanger
|
32
|
1283
|
Albinism, type 2 (OCA2) sequencing, total blood
ALBINISM (OCULOCUTANEOUS TYPE II AND OCULOCUTANEOUS COFFEE) · OCA2 · SANGER |
NGS
|
32
|
1390
|
Faciodigitogenital Dysplasia-Aarskog-Scott Syndrome (FGD1)
sequencing, total blood
AARSKOG SYNDROME · FGD1 · NGS |
NGS
|
32
|
1514
|
Aniridia (PAX6) sequencing, total blood
ANIRIDIA · PAX6 · SANGER |
Sanger
|
32
|
1565
|
ELN, sequencing, total blood
CUTIS LAXA · ELN · SANGER |
NGS
|
32
|
1567
|
Wiskott-Aldrich Syndrome (WAS) sequencing, total blood
WISKOTT-ALDRICH SYNDROME · WAS · SANGER |
Sanger
|
32
|
1627
|
Mucopolysaccharidosis type 1-Hurler Syndrome (IDUA) NGS, whole blood
MUCOPOLYSACCHARIDOSIS TYPE I (IH, IS Y IH/S) · IDUA · SANGER |
Sanger
|
32
|
1628
|
Leopard Syndrome (PTPN11) sequencing, total blood
LEOPARD SYNDROME · PTPN11 · SANGER |
NGS
|
32
|
1689
|
Cornelia de Lange Syndrome (SMC1A) sequencing, whole blood
CORNELIA DE LANGE SYNDROME · SMC1A · NGS |
NGS
|
32
|
1705
|
Severe Congenital Neutropenia (ELA2) NGS, total blood
CONGENITAL NEUTROPENIA · ELANE · SANGER |
Sanger
|
32
|
1710
|
Congenital Ichthyosis (TGM1) sequencing, total blood
CONGENITAL ICHTHYOSIS AR TYPE 1 · TGM1 · SANGER |
Sanger
|
32
|
1743
|
Larsen Syndrome (FLNB) NGS, total blood
LARSEN SYNDROME · FLNB · SANGER |
NGS
|
32
|
1778
|
Rigid Spine Muscular Dystrophy (SEPN1) sequencing, total blood
RIGID SPINE MUSCULAR DYSTROPHY TYPE 1 · SEPN1 · SANGER |
Sanger
|
32
|
1785
|
Hereditary Haemorrhagic Telangiectasia type 3, HHT3 (SMAD')
sequencing, total blood
HEREDITARY HEMORRHAGIC TELANGIECTASIA · SMAD4 · SANGER |
Sanger
|
32
|
1796
|
Laron Syndrome (GHR) sequencing, total blood
LARON SYNDROME · GHR · SANGER |
NGS
|
32
|
1863
|
Charcot Marie-Tooth Disease type 1C, CMT1C (LITAF) sequencing, total
blood
CHARCOT-MARIE-TOOTH DISEASE TYPE 1C · LITAF · SANGER |
Sanger
|
32
|
1866
|
Charcot Marie-Tooth Disease type 'F, CMT'F (PRX) sequencing, total
blood
CHARCOT-MARIE-TOOTH DISEASE TYPE 4F · PRX · SANGER |
Sanger
|
32
|
1868
|
Charcot Marie-Tooth Disease type 2D, CMT2D (GARS) sequencing, total
blood
CHARCOT-MARIE-TOOTH DISEASE TYPE 2D · GARS · NGS |
NGS
|
32
|
1882
|
Galactokinase Deficiency (GALK1) sequencing, total blood
GALACTOKINASE DEFICIENCY · GALK1 · SANGER |
Sanger
|
32
|
1921
|
Carnitine Deficiency (SLC22A5) sequencing, total blood
CARNITINE DEFICIENCY · SLC22A5 · SANGER |
Sanger
|
32
|
1936
|
Crigler-Najjar Syndrome (UGT1A1) sequencing, total blood
CRIGLER-NAJJAR SYNDROME · UGT1A1 · SANGER |
Sanger
|
32
|
1937
|
Galactosaemia (GALT) sequencing, total blood
GALACTOSEMIA · GALT · SANGER |
Sanger
|
32
|
1946
|
Methylmalonic acidemia (MUT) sequencing, total blood
METHYLMALONIC ACIDEMIA WITHOUT HOMOCYSTINURIA · MUT · SANGER |
Sanger
|
32
|
1948
|
Mucopolysaccharidosis type 'B-Morquio Syndrome type B (GLB1)
sequencing, total blood
MUCOPOLYSACCHARIDOSIS TYPE 4B · GLB1 · NGS |
NGS
|
32
|
1956
|
Limb-Girdle Muscular Dystrophy, type 2E, LGMD2E (SGCB) sequencing,
total blood
LIMG-GIRDLE MUSCULAR DYSTROPHY TYPE 2E · SGCB · SANGER |
Sanger
|
32
|
1958
|
Limb-Girdle Muscular Dystrophy, type 2F, LGMD2F (SGCD) sequencing,
total blood
LIMG-GIRDLE MUSCULAR DYSTROPHY TYPE 2F · SGCD · SANGER |
Sanger
|
32
|
3330
|
IPEX Syndrome (FOXP3) sequencing, total blood
IPEX SYNDROME (IMMUNE DYSREGULATION- POLYENDOCRINOPATHY -ENTEROPATHY-X-LINKED SYNDROME) · FOXP3 · SANGER |
Sanger
|
32
|
3392
|
Charcot Marie-Tooth Disease type 1X, CMT1X (GJB1) sequencing, total
blood
X-LINKED CHARCOT-MARIE-TOOTH TYPE 1 DISEASE · GJB1 · SANGER |
Sanger
|
32
|
3446
|
Haemophagocytic Lymphohistiocytosis (PRF1) sequencing, total blood
FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS · PRF1 · SANGER |
Sanger
|
32
|
3612
|
Angiotensinogen (Met235Thr - AGT) polymorphysm , total blood
DRUGS METABOLISM · AGT (POLYMORPHISM Met235Thr) · SANGER |
Sanger
|
22
|
3616
|
Angiotensin-Converting Enzyme (I/D-ACE) polymorphism, total blood
DRUGS METABOLISM · ACE (POLYMORPHISM I/D INTRON 16) · FRAGMENT A. |
Análisis de Fragmentos
|
27
|
3625
|
Neuronal Ceroid Lipofuscinosis type 3-Batten Disease (deletion
1Kb-CLN3) screening, total blood
CONGENITAL NEURONAL CEROID LIPOFUSCINOSIS · CLN3 · MLPA |
MLPA
|
22
|
3664
|
Cystinosis (CTNS) sequencing+del65kb, whole blood
CYSTINOSIS · CTNS · SANGER |
Sanger
|
32
|
3671
|
Nephrotic Syndrome (NPHS2) sequencing, total blood
CONGENITAL NEPHROSIS TYPE 2 · NPHS2 · SANGER |
Sanger
|
32
|
3674
|
Lesch-Nyhan Syndrome (HPRT1) sequencing, total blood
LESCH-NYHAN SYNDROME · HPRT1 · SANGER |
Sanger
|
32
|
3907
|
Atypical Haemolytic Uraemic Syndrome (MCP) sequencing, total blood
ATYPICAL HEMOLYTIC-UREMIC SYNDROME · CD46 · NGS |
NGS
|
32
|
3908
|
Atypical Haemolytic Uraemic Syndrome (MCP) MLPA, total blood
ATYPICAL HEMOLYTIC-UREMIC SYNDROME · PANEL · MLPA |
MLPA
|
22
|
3921
|
Centronuclear Myopathy (DNM2) sequencing, total blood
CENTRONUCLEAR MYOPATHY · DNM2 · SANGER |
NGS
|
32
|
3942
|
Branchiootorenal Syndrome, BOR (EYA1) sequencing, total blood
BRANCHIOOTORENAL SYNDROME · EYA1 · SANGER |
NGS
|
32
|
4004
|
Glycogenosis type 3 (AGL) sequencing, total blood
GLYCOGEN STORAGE DISEASE TYPE 3 · AGL · NGS |
NGS
|
32
|
4022
|
Thrombocytopenic Thrombotic Purpura (ADAMTS13) sequencing, total
blood
CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA · ADAMTS13 · NGS |
NGS
|
32
|
4047
|
Alström Syndrome (ALMS1) sequencing, total blood
ALSTRÖM SYNDROME · ALMS1 · NGS |
NGS
|
32
|
4063
|
Kallman, syndrome type 1 (KAL1) NGS, whole blood
KALLMAN TYPE 1 SYNDROME (HYPOGONADOTROPIC HYPOGONADISM WITH/WITHOUT ANOSMIA) · KAL1 · SANGER |
Sanger
|
32
|
4080
|
Alport Syndrome (COL4A3) sequencing, total blood
ALPORT SYNDROME · COL4A3 · SANGER |
NGS
|
32
|
4081
|
Alport Syndrome (COL4A4) sequencing, total blood
ALPORT SYNDROME · COL4A4 · SANGER |
NGS
|
32
|
4908
|
Amyotrophic Lateral Sclerosis type 8 (VAPB) sequencing, whole blood
AMYOTROPHIC LATERAL SCLEROSIS TYPE 8 · VAPB · SANGER |
Sanger
|
32
|
5298
|
Costello syndrome (HRAS) NGS, whole blood
COSTELLO SYNDROME · HRAS · SANGER |
Sanger
|
32
|
5391
|
Mowat-Wilson, syndrome (ZEB2) sequencing, whole blood
MOWAT-WILSON SYNDROME · ZEB2 · SANGER |
Sanger
|
32
|
