Monday, September 30, 2019

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