The psychomotor development delay is one of the clinically situations in which is difficult to find the etiopathogenesis. GCC Genetics has developed a new strategy based on a sequential approach, with results in one to two weeks for each step:

1. Karyotype;

2. Fragile X Syndrome - Molecular study (both gender; not advised in the presence of microcephaly);

3. Diagnostics panel for subtelomeric rearrangements;

4. Diagnostics panel for common microdelections;

5. Diagnostics panel for metabolic diseases by ARRAY CGC.



4. Diagnostics panel for common microdelections

DiGeorge Syndrome (22q11.2)
Williams Syndrome
Prader-Willi Syndrome
Angelman Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Phelan-McDermid Syndrome (22q13)
1p36 Deletion Syndrome
Cri du Chat Syndrome (5p15)
Miller-Dieker Syndrome (17p)
Wolf-Hirschhorn Syndrome(4p16.3)
2p16 Microdeletion
Microdeletion 3q29 Syndrome
9q22.3 Microdeletion
15q24 Deletion Syndrome
17q21 Microdeletion
Langer-Giedion Syndrome(8q)
WAGR Syndrome
Neurofibromatosis type 1 Microdeletion
Duplication Xq28 (MECP2)
Rubinstein-TaybiSyndrome
DiGeorge Syndrome, critical region II, (10p15)

5. Diagnostics panel for metabolic diseases by - 94 mutations on 26 genes (Patent Pending)

ACADM (MCAD)
ARSA (Metachromatic leukodystrophy)
ATP7B (Wilson disease)
BTD (Biotinidase deficiency)
CLN2 (Jansky-Bielschovsky disease)
CLN5 (Neuronal Ceroid Lipofuscinosis -5)
CLN8 (Neuronal Ceroid Lipofuscinosis -8)
CPT2 (CPT II deficiency)
FAH (Tyrosinemia)
G6PC (GSD I)
GAA (Pompe disease or GSD II)
GALC (Krabbe disease)
GALT (Galactosemia)
GBA (Gaucher disease)
HADHA (LCHAD)
HEXA (Tay-Sachs disease)
HGD (Alcaptunúria)
MAN2B1(Alpha-mannosidosis deficiency)
NPC1 (Niemann-Pick C disease)
NPC2 (Niemann-Pick C disease)
PEX1 (Zellwegger disease)
PEX26 (Zellwegger disease)
PPT1 (Neuronal Ceroid Lipofuscinosis -1)
PYGM (McArdle disease or GSD V)
SLC37A4 (GSD I)
TPP1 (Neuronal Ceroid Lipofuscinosis)


These tests are also available in prenatal diagnosis (after amniocentesis or CVS). For more information about this new approach or other information regarding CGC Genetics, please contact us.