Chromosomal Microarray Analysis can diagnose all types of syndromes resulting from micro deletions or duplications in the genome. However this test will not detect mutations or sequence changes in the gene(s) which may cause these disorders. Also the detection rates may vary based on the array option/resolution chosen. This is an indicative list mentioning the major disorders covers. Please note that this list is neither exhaustive nor up to date list.  High resolution chips will invariably cover most of the changes and the expanding scientific knowledge about the functions of various genes and their disease association will keep improving the diagnostic yield and utility of arrays.

Sr.NoDisorders Tested
2Action myclonus-renal failure syndrome
3Adrenal hypoplasia congenita (AHC)
5Adult-onset autosomal dominant leukodystrophy (ADLD)
7Allan-Herndon-Dudley syndrome
8Albinism, ocular type 1
9Albright hereditary osteodystrophy-like/Brachydactyly-MR
10Alpha thalassemia mental retardation (ATR-16) (OS)
11Alport syndrome, X-linked; ATS
12Alzheimer disease, early onset with cerebral amyloid angiopathy (FISH)
13Andersen cardiodysrhythmic periodic paralysis
14Androgen insensitivity syndrome
16Aniridia II
17Anterior segment mesenchymaldysgenesis
18Apert syndrome
19Archeiropodia, brazilian type
20Arthropathy, progressive pseudorheumatoid, of childhood, PPAC
21Ataxia-telangiectasia and Rad3-related; ATR
22Atrial septal defect
23Atrial septal defect (ASD) with atrioventricular conduction defects
25Bannayan-Riley-Ruvalcaba (BRRS)
26Bartter, antenatal 1
27Bartter, antenatal 2
28Bartter 3 (classic)
29Bartter 4 (infantile with sensorineural deafness)
30Basal cell nevus/Gorlin-Goltz
32Bilateral frontoparietalpolymicrogyria  (BFPP)
33Birk-Barel mental retardation dysmorphism syndrome
34Blepharophimosis, ptosis, epicanthus inversus (BPE)
35Börjeson-Forssman-Lehmann syndrome
36Brachydactly, type C
37Branchiootic syndrome
38Branchio-oto-renal (BOR)/Melnick-Fraser
39Brunner syndrome
42Campomelic dysplasia (CMPD)
43Canavan disease
44Cat-eye syndrome
45Cerebral cavernous malformations
46Cerebral cavernous malformations 2
47Ceroidlipofuscinosis, neuronal 8, northern epilepsy variant
48Char syndrome
50Charcot-Marie-Tooth disease, demyelinating, type 1A
51Chondrodysplasiapunctata 1, X-linked recessive
53Chromosome 9p deletion syndrome
54Cilliary dyskinesia, primary 1
55Cilliary dyskinesia, primary 3
56Cleidocranial dysplasia (CCD)
57Conffin-Lowry syndrome
58Congenital adrenal hyperplasia (CAH) (OS)
59Congenital diaphragmatic hernia (CDH)
60Congenital diaphragmatic hernia 2 (CDH2)
61Cornelia de Lange 1
62Cornelia de Lange 2
63Cortical dysplasia-focal epilepsy syndrome
64Convulsions, benign familial infantile, 3
66Craniofrontonasal syndrome
67Craniometaphyseal dysplasia autosomal dominant
68Craniosynostosis, type 2
69Creatine deficiency syndrome
72Cystinosis, nephropathic
73Dandy-Walker malformation (DWM)
74Danon disease
75Deafness, congenital, with inner ear agenesis, microtia, and microdontia
76Deafness, X-linked 2
77Dent disease 1
78Diabetes insipidus, nephrogenic, X-linked
79Diabetes mellitus, insulin-dependent 5
80Diabetes mellitus, transient neonatal 1
81DiGeorge/Velocardiofacial (VCF)
82DiGeorge 2
84Dosage-sensitive sex reversal
85Down syndrome critical region (DSCR)
86Dyggve-Melchior-Clausen syndrome
87Dyskeratosiscongenita, X-linked
88Dyssegmental dysplasia, Silverman-Handmaker type
89Ectodermal dysplasia, hypohidrotic, autosomal recessive
90Ectodermal dysplasia, hypohidrotic, X-linked
91Epilepsy, benign neonatal 2
92Epilepsy, childhood absence susceptibility to 6,; ECA6
93Epilepsy, juvenile absence, susceptibility to,1; EJA1
94Epilepsy, myoclonic juvenile;EJM
95Epilepsy, idiopathic generalized
96Epilepsy, lateral temporal lobe, autosomal dominant; ADLTE
97Epilepsy, nocturnal frontal lobe, type 3
98Epilepsy, nocturnal frontal lobe, type 1
99Epilepsy, X-linked, with variable learning disablities and behavior disorders
100Epileptic encephalopathy, early infantile, 3
101Episodic Ataxia, Type 1
102Fabry disease
103Faciogenital dysplasia
104Familial adenomatous polyposis (FAP)/Gardner/MR
105Familial hypocalciurichypercalcemia 1 (HHC1)
106Febrile seizures associated with afrebile seizures
108FG syndrome
109FG 5
110FMR1 Microdeletion
111Focal dermal hypoplasia
112Forebrain defects
114Generalized epilepsy with febrile seizures plus 1,2,3 (GEFS+1)
116Glucose transport defect, blood-brain barrier
117Glycerol kinase deficiency (GKD)
118Granulomatous disease, chronic, X-linked
120Hand-foot-uterus syndrome
121Hemophilia A
122Heterotaxy, visceral, 2, autosomal
123Heterotopia, periventricular, X-linked dominant
124Hirschprung disease, susceptibility to, 1-2
125Holoprosencephaly 1-9
126Holoprosencephaly and preaxialpolydactyly
128Hyperekplexia and epilepsy
129Hyperostosis corticalisgeneralisata
130Hypoparathyroidism, sensorineural deafness, renal disease (HDR)
131Hypophosphatemic rickets, X-linked dominant
132Hypotonia-cystinuria syndrome
133Ichythyosis, X-linked
134Immunodeficiency-centromeric instability-facial anomalies syndrome
136Jacobsen/11q terminal deletion disorder
137Johanson-Blizzard syndrome
138Joubert 3,4,5
139Juvenile polyposis syndrome (JPS), BMPR1A-related
140Juvenile polyposis syndrome (JPS), MADH4-related
141Kallmann 1
143Langer mesomelic dysplasia (LMD) (OS)
144Leber congenital amaurosis X (LCAX)
145Leri-Weill dyschondrosteosis (LWD) (OS)
146Lesch-Nyhan syndrome
147Leukodystrophy with microdeletion 11q14.3
148Li-Fraumeni 1 (LFS)
149Lissencephaly 1
150Lissencephaly with cerebellar hypoplasia
151Loeys-Dietz (LDS), TGFBR1-related
152Loeys-Dietz (LDS), TGFBR2-related
154Lubs X-linked mental retardation syndrome;
157Marfan Syndrome
158Masa syndrome
159McCune-Albright syndrome
160McKusick-Kaufman syndrome
161Meckel 4
162Menkes disease
163Mental retardation, autosomal dominant 1
164Mental retardation and microcephaly with pontine and cerebellar hypoplasia
165Mental retardation-hypotonic facies syndrome, X-linked
166Mental retardation, X-linked, associated with fragile site  FRAXE
167Mental retardation, X-linked, Snyder-Robinson type
168Mental retardation, X-linked, syndromic, Christianson type
169Mental retardation, X-linked, syndromic, Jarid1C-related
170Mental retardation, X-linked, syndromic, 10
171Mental retardation , X-linked, syndromic, Turner type
172Mental retardation, X-linked, syndromic, ZDHHC9
173Mental retardation, X-linked, with cerebellar hypoplasia
174Mental retardation, X-linked with epilepsy
175Mental retardation, X-linked, with short stature, small testes, muscle wasting and tremor
176Mental retardation, X-linked
177Mesomelic dysplasia, savarirayan type
178Metachromatic leukodystrophy
179Micropthalmia, isolated, with cataract 2
180Microphthalmiasyndromic 2
181Microphthalmia 3
182Micropthalmiasyndromic 6
183Microphthalmia 7 with linear skin defects
184Microtia with nasalacrimal duct imperforation and eye coloboma
188Mucopolysaccharidosis type II
189Multiple synostoses syndrome 1
190Muscle-eye-brain disease
191Myoclonic epilepsy, juvenile, susceptibility to, 3
192Myoclonic epilepsy of Lafora
193Nablus mask-like facial
194Nail-patella (NPS)
196Nephronophthisis 1
197Neonatal severe primary hypoparathyroidism (NSHPT)
198Neurofibromatosis 1 (NF1)/MR
199Neurofibromatosis 2 (NF2)
200Neuromotor development delay, cerebellar ataxia, and epilepsy
201Neuropathy, hereditary, with liability to pressure palsies
202NFIA Haploinsufficiency
203Nievergelt syndrome
205Norrie disease
206Oculocutaneous albinism 2 (OCA2)  (OS)
207Oculopharyngeal muscular dystrophy
209Omodysplasia 1; OMOD1
210Opitz GBBB syndrome, X-linked
211Ornithine transcarbamylase deficiency (OTC)
212Orofacial cleft 10
213Oro-facio-digital 1 (OFD1)
214Osler-Rendu-Webeer syndrome 2 (telangiectasia, hereditary hemmorhagic, type 2)
215Osteogenesisimperfecta type IIA
216Osteogenesisimperfecta type IV
217Oto-facio-cervical (OFC)
220Pancreatic agenesis, congenital
221Pancreatitis, hereditary; PCTT
222Papillorenal syndrome
224Perisylvianpolymicrogyria (Polymicrogyria, bilateral perisylvian; BPP)
225Persistent mullerian duct syndrome, type I
226Persistent mullerian duct syndrome, type 2
227Phosphoglycerate kinase deficiency
229Pitt-Hopkins syndrome
230Polycystic kidney disease 1 (PKD1) (OS)
231Polydactyly, preaxial II
232Potocki-Lupski syndrome
234Prader-Willi (PWS)
235Prader-Willi syndrome imprinting center
238Pseudoxanthomaelasticum, FormeFruste
239PTEN hamartomatumor
240Pulmonary venoocclusive disease
241Pyruvate decarboxylase deficiency
242Renal cysts and diabetes (RCAD)
243Renpenning syndrome
245Rett syndrome
246Rett syndrome, congenital variant, included
247Rieger 1 (RIEG1)
248Rubinstein-Taybi (RTS)
251Schizophrenia 9
252Schwartz-Jampel syndrome, type 1
254Senior-Loken 6
255Severe myoclonic epilepsy of infancy (SMEI)
256Short stature, pituitary and cerebellar defects, small sellaturcica
257Siderius X-linked mental retardation syndrome
258Simpson-Golabi_Behmel syndrome, type 1
259Smith-Lemli-Opitz (SLOS)
260Smith-Magenis (SMS)
262Speech-language disorder 1
263Spermatogenic failure, nonobstructive, Y-linked
264Spinocerebellar ataxia
265Split-hand/foot malformation
266Spondylocostaldysostosis 1, autosomal recessive
267SRY dosage abnormalities
268Stapes ankylosis with broad thumb and toes
269Steroid sulfatase deficiency
270Stickler I, II
271Stoccos dos Santos
272Stuve-Wiedemann syndrome (Schwartz-Jampel syndrome, type 2)
274Synpolydactyly/Syndactyly I
275Teleangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber
276Tetralogy of Fallot
277Timothy syndrome
278Tooth agenesis, selective, 3
279Torg-Winchester syndrome
280Townes-Brocks 1
281Treacher Collins-Franceschetti syndrome
282Trichorhinophalangeal 1
283Trigonocephaly (9p)
284Tuberous sclerosis 2 (TSC2) (OS)
286Usher syndrome, type IIC
287Van der Woude
288Variably charged, X chromosome, 3A
289Vascular endothelial growth factor (VEGFA)-related disorders
290Von Hippel-Lindau syndrome
291Waardenburg syndrome, type 1
292Waardenburg syndrome IIA
294Waardenburg-Shah syndrome
296WilmsTumor 1
297Wiskott-Aldrich syndrome
298Witkop syndrome
300Wolff-Parkinson-White syndrome
301X inactivation-specific transcript; XIST
302X-linked agammaglobulinemia
303X-linked heterotaxy
304X-linked idiopathic short stature (ISSX) (OS)
305X-linked infantile spasms, ARX-related, CDKL5-related
306X-linked juvenile retinoschisis
307X-linked lissencephaly
308X-linked lissencephaly with ambiguous genitalia
309X-linked lymphoproliferative syndrome (XLP)
310X-linked mental retardation
311X-linked mental retardation with isolated growth hormone deficiency
312XX male
313XY gonadal dysgenesis
314XY sex-reversal, +/- adrenal failure
31546, XY gonadal dysgenesis, complete or partial, with or without adrenal failure
31646, XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion
3171p36 Microdeletion
3181q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR)
3191q21.1 Microdeletion with susceptibility for mental retardation, autism, or congenital anomalies
320All 41 unique subtelomeric regions
321All 43 unique pericentromeric regions